A85V (p.Ala85Val) variant of AQP7 (Aquaporin-7)
A85V (p.Ala85Val) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A85V (p.Ala85Val) variant details
- p.Ala85Val
- ExAC rs747557155
- TOPMed rs747557155
- gnomAD rs747557155
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.07
- CADD 21.80
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available