L9F (p.Leu9Phe) variant of AQP1 (Aquaporin-1)
L9F (p.Leu9Phe) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- gnomAD 7-30911934-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.26
- MetaLR 0.38
- MetaSVM -0.84
- CADD 13.00
- PolyPhen-2 0.08
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available