A100S (p.Ala100Ser) variant of AQP7 (Aquaporin-7)
A100S (p.Ala100Ser) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A100S (p.Ala100Ser) variant details
- p.Ala100Ser
- 1000Genomes rs77962308
- ExAC rs77962308
- gnomAD rs77962308
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.31
- CADD 0.26
- PolyPhen-2 0.15
- SIFT 0.27
- Population evidence available
- Structural context available