G65D (p.Gly65Asp) variant of OCA2 (P protein)
G65D (p.Gly65Asp) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G65D (p.Gly65Asp) variant details
- p.Gly65Asp
- TOPMed rs2044628394
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.35
- MetaSVM -0.67
- CADD 0.83
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available