H92R (p.His92Arg) variant of AQP7 (Aquaporin-7)
H92R (p.His92Arg) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
H92R (p.His92Arg) variant details
- p.His92Arg
- ExAC rs767970054
- gnomAD rs767970054
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.95
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available