R106H (p.Arg106His) variant of AQP7 (Aquaporin-7)
R106H (p.Arg106His) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R106H (p.Arg106His) variant details
- p.Arg106His
- cosmic curated COSV10942
- 1000Genomes rs140411243
- ExAC rs140411243
- TOPMed rs140411243
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.25
- CADD 14.80
- PolyPhen-2 0.12
- SIFT 0.05
- Most common in the HGDP:NORTHERNHAN population (allele frequency 0.05)
- Structural context available