F5C (p.Phe5Cys) variant of AQP1 (Aquaporin-1)
F5C (p.Phe5Cys) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
F5C (p.Phe5Cys) variant details
- p.Phe5Cys
- gnomAD 7-30921621-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.58
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available