V17E (p.Val17Glu) variant of OCA2 (P protein)
V17E (p.Val17Glu) 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 0.43 / 1. The record also includes population frequency data and structural context.
V17E (p.Val17Glu) variant details
- p.Val17Glu
- rs1237182917
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10066
- TOPMed rs1237182917
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.63
- MetaSVM -0.13
- CADD 8.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available