D46G (p.Asp46Gly) variant of OCA2 (P protein)
D46G (p.Asp46Gly) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D46G (p.Asp46Gly) variant details
- p.Asp46Gly
- ExAC rs766051204
- gnomAD rs766051204
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.56
- MetaSVM -0.49
- CADD 5.70
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available