D91E (p.Asp91Glu) variant of OCA2 (P protein)
D91E (p.Asp91Glu) 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.
D91E (p.Asp91Glu) variant details
- p.Asp91Glu
- ExAC rs755736455
- gnomAD rs755736455
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.55
- MetaSVM -0.50
- CADD 11.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available