Q21H (p.Gln21His) variant of OCA2 (P protein)
Q21H (p.Gln21His) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q21H (p.Gln21His) variant details
- p.Gln21His
- gnomAD rs61742223
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.83
- MetaSVM 0.13
- CADD 17.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available