V137F (p.Val137Phe) variant of AQP3 (Aquaporin-3)
V137F (p.Val137Phe) in AQP3 (Aquaporin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V137F (p.Val137Phe) variant details
- p.Val137Phe
- gnomAD 9-33442934-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available