A334V (p.Ala334Val) variant of OCA2 (P protein)
A334V (p.Ala334Val) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of OCA2-related disorder; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosina. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A334V (p.Ala334Val) variant details
- p.Ala334Val
- rs121918168
- ClinGen CA251637
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62348
- Pathogenic/Likely pathogenic
- OCA2-related disorder; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosina
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.85
- MetaSVM 0.83
- CADD 24.80
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLU)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. (PMID 10649493)
- Cited in: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (PMID 10094567)