F5L (p.Phe5Leu) variant of AQP1 (Aquaporin-1)
F5L (p.Phe5Leu) in AQP1 (Aquaporin-1) 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.
F5L (p.Phe5Leu) variant details
- p.Phe5Leu
- ExAC rs767122207
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.16
- MetaLR 0.15
- MetaSVM -0.89
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available