V32L (p.Val32Leu) variant of OCA2 (P protein)
V32L (p.Val32Leu) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V32L (p.Val32Leu) variant details
- p.Val32Leu
- rs1321894065
- ClinGen CA391366771
- ClinVar RCV001948994
- TOPMed rs1321894065
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.36
- MetaSVM -0.67
- CADD 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available