L31V (p.Leu31Val) variant of OCA2 (P protein)
L31V (p.Leu31Val) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- ExAC rs772076517
- gnomAD rs772076517
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.77
- MetaSVM -0.02
- CADD 9.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available