A16V (p.Ala16Val) variant of OCA2 (P protein)
A16V (p.Ala16Val) 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 0.24 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs776573914
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62349
- ExAC rs776573914
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.42
- MetaSVM -0.46
- CADD 2.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available