G27E (p.Gly27Glu) variant of OCA2 (P protein)
G27E (p.Gly27Glu) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- ExAC rs762581976
- gnomAD rs762581976
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.59
- MetaSVM -0.40
- CADD 2.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available