R36C (p.Arg36Cys) variant of OCA2 (P protein)
R36C (p.Arg36Cys) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Tyrosinase-positive oculocutaneous albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R36C (p.Arg36Cys) variant details
- p.Arg36Cys
- rs148066812
- ClinGen CA7439579
- cosmic curated COSV62341
- ClinVar RCV001119793
- Conflicting interpretations
- not provided; Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.62
- MetaSVM -0.29
- CADD 0.72
- ClinVar: Conflicting classifications of pathogenicity (not provided; Tyrosinase-positive oculocutaneous albinism)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)