P12S (p.Pro12Ser) variant of OCA2 (P protein)
P12S (p.Pro12Ser) 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 0.20 / 1. The record also includes population frequency data and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- ExAC rs759852184
- gnomAD rs759852184
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.25
- MetaSVM -0.71
- CADD 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available