R352S (p.Arg352Ser) variant of OCA2 (P protein)
R352S (p.Arg352Ser) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nonsyndromic Oculocutaneous Albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
R352S (p.Arg352Ser) variant details
- p.Arg352Ser
- rs1566767423
- ClinGen CA391362434
- ClinVar RCV000755083
- Ensembl rs1566767423
- Likely pathogenic
- Nonsyndromic Oculocutaneous Albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.83
- MetaSVM 0.65
- CADD 21.70
- ClinVar: Likely pathogenic (Nonsyndromic Oculocutaneous Albinism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available