R12C (p.Arg12Cys) variant of AQP1 (Aquaporin-1)
R12C (p.Arg12Cys) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R12C (p.Arg12Cys) variant details
- p.Arg12Cys
- rs776497596
- gnomAD 7-30921716-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0701
- CADD 0.04
- SIFT 0.73
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available