S50F (p.Ser50Phe) variant of OCA2 (P protein)
S50F (p.Ser50Phe) 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 0.38 / 1. The record also includes population frequency data and structural context.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- rs549983090
- cosmic curated COSV11526
- gnomAD rs549983090
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.61
- MetaSVM -0.14
- CADD 9.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available