R106C (p.Arg106Cys) variant of AQP7 (Aquaporin-7)
R106C (p.Arg106Cys) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R106C (p.Arg106Cys) variant details
- p.Arg106Cys
- ExAC rs778763120
- TOPMed rs778763120
- gnomAD rs778763120
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.46
- CADD 22.90
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available