P25L (p.Pro25Leu) variant of OCA2 (P protein)
P25L (p.Pro25Leu) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- ExAC rs756543761
- gnomAD rs756543761
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.61
- MetaSVM -0.54
- CADD 2.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available