A209V (p.Ala209Val) variant of OTC (P00480)
A209V (p.Ala209Val) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
A209V (p.Ala209Val) variant details
- p.Ala209Val
- rs72558417
- ClinGen CA224717
- NCI-TCGA Cosmic COSV5000
- ClinVar RCV000083518
- Pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- AlphaMissense 0.31
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.80
- EVE 0.22
- ClinVar: Pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients. (PMID 10070627)
- Cited in: A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with… (PMID 8530002)