D46E (p.Asp46Glu) variant of OCA2 (P protein)
D46E (p.Asp46Glu) 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.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- gnomAD rs1459745609
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.56
- MetaSVM -0.55
- CADD 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available