F24C (p.Phe24Cys) variant of AQP1 (Aquaporin-1)
F24C (p.Phe24Cys) in AQP1 (Aquaporin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
F24C (p.Phe24Cys) variant details
- p.Phe24Cys
- rs749625062
- gnomAD 7-30911975-CCT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 30.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available