H57R (p.His57Arg) variant of AQP7 (Aquaporin-7)
H57R (p.His57Arg) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H57R (p.His57Arg) variant details
- p.His57Arg
- ExAC rs752210629
- TOPMed rs752210629
- gnomAD rs752210629
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.21
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available