R95H (p.Arg95His) variant of AQP3 (Aquaporin-3)
R95H (p.Arg95His) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R95H (p.Arg95His) variant details
- p.Arg95His
- ExAC rs201240634
- TOPMed rs201240634
- gnomAD rs201240634
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.65
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available