D46V (p.Asp46Val) variant of OCA2 (P protein)
D46V (p.Asp46Val) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D46V (p.Asp46Val) variant details
- p.Asp46Val
- ExAC rs766051204
- gnomAD rs766051204
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.72
- MetaSVM 0.02
- CADD 12.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available