P63S (p.Pro63Ser) variant of OCA2 (P protein)
P63S (p.Pro63Ser) in OCA2 (P protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P63S (p.Pro63Ser) variant details
- p.Pro63Ser
- ExAC rs754549783
- TOPMed rs754549783
- gnomAD rs754549783
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.65
- MetaSVM -0.13
- CADD 1.85
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available