G41E (p.Gly41Glu) variant of OCA2 (P protein)
G41E (p.Gly41Glu) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G41E (p.Gly41Glu) variant details
- p.Gly41Glu
- cosmic curated COSV62358
- gnomAD rs2044634577
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.50
- MetaSVM -0.58
- CADD 4.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available