G109R (p.Gly109Arg) variant of OCA2 (P protein)
G109R (p.Gly109Arg) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G109R (p.Gly109Arg) variant details
- p.Gly109Arg
- TOPMed rs904727427
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.52
- MetaSVM -0.51
- CADD 13.46
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available