P52L (p.Pro52Leu) variant of OCA2 (P protein)
P52L (p.Pro52Leu) in OCA2 (P protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- 1000Genomes rs200885801
- ExAC rs200885801
- TOPMed rs200885801
- gnomAD rs200885801
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.46
- MetaSVM -0.54
- CADD 1.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available