---
source: src/gnomad_mtdna/pbs.rs
expression: vep
---
allele: G
consequence: missense_variant
impact: MODERATE
symbol: MT-ND5
gene: ENSG00000198786
feature_type: Transcript
feature: ENST00000361567
feature_biotype: protein_coding
exon: 1/1
intron: ~
hgvsc: "ENST00000361567.2:c.208A>G"
hgvsp: "ENSP00000354813.2:p.Thr70Ala"
cdna_position: "208"
cds_position: "208"
protein_position: "70"
amino_acids: T/A
codons: Aca/Gca
dbsnp_id: "1"
distance: ~
strand: "1"
variant_class: SNV
minimised: ~
symbol_source: HGNC
hgnc_id: "HGNC:7461"
canonical: true
tsl: ~
appris: P1
ccds: ~
ensp: ENSP00000354813
swissprot: ~
trembl: ~
uniparc: ~
gene_pheno: "1"
sift:
  prediction: deleterious_low_confidence
  score: 0.02
polyphen:
  prediction: benign
  score: 0.033
domains:
  - id: 5xtc
    source: ENSP_mappings
  - id: 5xtd
    source: ENSP_mappings
  - id: 5xth
    source: ENSP_mappings
  - id: 5xti
    source: ENSP_mappings
  - id: 5xti
    source: ENSP_mappings
  - id: PF00662
    source: Pfam
  - id: PTHR42829
    source: PANTHER
  - id: PTHR42829
    source: PANTHER
  - id: TIGR01974
    source: TIGRFAM
hgvs_offset: ~
motif_name: ~
motif_pos: ~
high_inf_pos: ~
motif_score_change: ~
lof: ~
lof_filter: ~
lof_flags: ~
lof_info: ~

