K625R (p.Lys625Arg) variant of OCA2 (P protein)
K625R (p.Lys625Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
K625R (p.Lys625Arg) variant details
- p.Lys625Arg
- rs2506400245
- ClinGen CA391364504
- ClinVar RCV003128359
- Likely pathogenic
- Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.69
- MetaSVM 0.37
- CADD 22.50
- ClinVar: Likely pathogenic (Tyrosinase-positive oculocutaneous albinism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Oculocutaneous Albinism and Ocular Albinism Overview. (PMID 37053367)