P12L (p.Pro12Leu) variant of OCA2 (P protein)
P12L (p.Pro12Leu) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- TOPMed rs1029264707
- gnomAD rs1029264707
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.54
- MetaSVM -0.31
- CADD 11.72
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available