R720C (p.Arg720Cys) variant of OCA2 (P protein)
R720C (p.Arg720Cys) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R720C (p.Arg720Cys) variant details
- p.Arg720Cys
- rs141545475
- ClinGen CA7438721
- cosmic curated COSV62350
- ClinVar RCV003041213
- Pathogenic/Likely pathogenic
- OCA2-related disorder; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Tyrosina
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.36
- MetaLR 0.86
- MetaSVM 0.93
- CADD 33.00
- 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 Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Cited in: Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. (PMID 10987646)
- Cited in: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (PMID 10094567)