---
source: src/pbs/gnomad/vep_gnomad3.rs
expression: vep
---
allele: G
consequence: missense_variant
impact: MODERATE
symbol: MT-ND5
gene: ENSG00000198786
featureType: Transcript
feature: ENST00000361567
featureBiotype: protein_coding
exon: 1/1
hgvsc: "ENST00000361567.2:c.208A>G"
hgvsp: "ENSP00000354813.2:p.Thr70Ala"
cdnaPosition: "208"
cdsPosition: "208"
proteinPosition: "70"
aminoAcids: T/A
codons: Aca/Gca
dbsnpId: "1"
strand: "1"
variantClass: SNV
symbolSource: HGNC
hgncId: "HGNC:7461"
canonical: true
appris: P1
ensp: ENSP00000354813
genePheno: "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

