F5I (p.Phe5Ile) variant of AQP1 (Aquaporin-1)
F5I (p.Phe5Ile) in AQP1 (Aquaporin-1) 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.
F5I (p.Phe5Ile) variant details
- p.Phe5Ile
- gnomAD 7-30911922-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.17
- MetaLR 0.34
- MetaSVM -0.65
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available