S50C (p.Ser50Cys) variant of OCA2 (P protein)
S50C (p.Ser50Cys) in OCA2 (P protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S50C (p.Ser50Cys) variant details
- p.Ser50Cys
- rs549983090
- gnomAD rs549983090
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.69
- MetaSVM 0.01
- CADD 13.77
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available