L688P (p.Leu688Pro) variant of OCA2 (P protein)
L688P (p.Leu688Pro) in OCA2 (P protein) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Tyrosinase-positive oculocutaneous albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
L688P (p.Leu688Pro) variant details
- p.Leu688Pro
- ExAC rs749087766
- TOPMed rs749087766
- gnomAD rs749087766
- Pathogenic
- Tyrosinase-positive oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.05
- CADD 28.90
- ClinVar: Pathogenic (Tyrosinase-positive oculocutaneous albinism)
- UniProt: Pathogenic (in unclassified OCA)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available