R106S (p.Arg106Ser) variant of AQP7 (Aquaporin-7)
R106S (p.Arg106Ser) 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.
R106S (p.Arg106Ser) variant details
- p.Arg106Ser
- ExAC rs778763120
- TOPMed rs778763120
- gnomAD rs778763120
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.45
- CADD 22.30
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available