R572C (p.Arg572Cys) variant of OCA2 (P protein)
R572C (p.Arg572Cys) 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 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R572C (p.Arg572Cys) variant details
- p.Arg572Cys
- rs374415755
- ClinGen CA7438939
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62354
- Pathogenic/Likely pathogenic
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-positive oculocutane
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.80
- MetaSVM 0.64
- CADD 28.40
- ClinVar: Pathogenic/Likely pathogenic (SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosinase-posi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)