R12H (p.Arg12His) variant of AQP7 (Aquaporin-7)
R12H (p.Arg12His) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R12H (p.Arg12His) variant details
- p.Arg12His
- ExAC rs777690481
- TOPMed rs777690481
- gnomAD rs777690481
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.16
- CADD 5.40
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the South Asian population (allele frequency 0.00019)
- Structural context available