L31F (p.Leu31Phe) variant of OCA2 (P protein)
L31F (p.Leu31Phe) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- ExAC rs772076517
- gnomAD rs772076517
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.86
- MetaSVM 0.15
- CADD 13.66
- Population evidence available
- Structural context available