M47V (p.Met47Val) variant of AQP7 (Aquaporin-7)
M47V (p.Met47Val) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
M47V (p.Met47Val) variant details
- p.Met47Val
- TOPMed rs1447127817
- gnomAD rs1447127817
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.18
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available