R12H (p.Arg12His) variant of AQP1 (Aquaporin-1)
R12H (p.Arg12His) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
R12H (p.Arg12His) variant details
- p.Arg12His
- rs187798109
- gnomAD 7-30921717-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0432
- CADD 0.20
- SIFT 0.03
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Literature evidence available