L28V (p.Leu28Val) variant of OCA2 (P protein)
L28V (p.Leu28Val) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L28V (p.Leu28Val) variant details
- p.Leu28Val
- Ensembl rs2141898283
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.62
- MetaSVM -0.43
- CADD 0.26
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available