E18G (p.Glu18Gly) variant of OCA2 (P protein)
E18G (p.Glu18Gly) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- ExAC rs747007633
- TOPMed rs747007633
- gnomAD rs747007633
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.83
- MetaSVM 0.23
- CADD 20.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available