G109A (p.Gly109Ala) variant of OCA2 (P protein)
G109A (p.Gly109Ala) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G109A (p.Gly109Ala) variant details
- p.Gly109Ala
- rs1352327430
- ClinGen CA391362866
- ClinVar RCV002613125
- TOPMed rs1352327430
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.74
- MetaSVM 0.29
- CADD 26.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available