E30A (p.Glu30Ala) variant of OCA2 (P protein)
E30A (p.Glu30Ala) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E30A (p.Glu30Ala) variant details
- p.Glu30Ala
- ExAC rs746874901
- gnomAD rs746874901
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.51
- MetaSVM -0.40
- CADD 0.31
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available