R720H (p.Arg720His) variant of OCA2 (P protein)
R720H (p.Arg720His) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R720H (p.Arg720His) variant details
- p.Arg720His
- rs776631782
- ClinGen CA7438720
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62343
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.36
- MetaLR 0.81
- MetaSVM 0.77
- CADD 29.80
- ClinVar: Likely pathogenic (Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGME)
- EBI: Likely pathogenic (in OCA2)
- UniProt: Likely pathogenic (in OCA2)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)