R10H (p.Arg10His) variant of AQP3 (Aquaporin-3)
R10H (p.Arg10His) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R10H (p.Arg10His) variant details
- p.Arg10His
- gnomAD rs1826932867
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.39
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available