P140L (p.Pro140Leu) variant of AQP3 (Aquaporin-3)
P140L (p.Pro140Leu) in AQP3 (Aquaporin-3) 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, published literature, and structural context.
P140L (p.Pro140Leu) variant details
- p.Pro140Leu
- gnomAD 9-33442925-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.16
- MetaLR 0.05
- MetaSVM -1.19
- CADD 23.70
- PolyPhen-2 0.34
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available