R111W (p.Arg111Trp) variant of OCA2 (P protein)
R111W (p.Arg111Trp) 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 0.34 / 1. The record also includes population frequency data and structural context.
R111W (p.Arg111Trp) variant details
- p.Arg111Trp
- rs1280092718
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62349
- gnomAD rs1280092718
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.57
- MetaSVM -0.37
- CADD 14.81
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available