P63L (p.Pro63Leu) variant of OCA2 (P protein)
P63L (p.Pro63Leu) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- Ensembl rs2044628744
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.73
- MetaSVM 0.14
- CADD 18.38
- Structural context available