P140A (p.Pro140Ala) variant of AQP3 (Aquaporin-3)
P140A (p.Pro140Ala) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P140A (p.Pro140Ala) variant details
- p.Pro140Ala
- gnomAD rs1470831829
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.07
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available