C102S (p.Cys102Ser) variant of AQP7 (Aquaporin-7)
C102S (p.Cys102Ser) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
C102S (p.Cys102Ser) variant details
- p.Cys102Ser
- gnomAD rs1468629772
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.48
- CADD 24.40
- PolyPhen-2 0.57
- SIFT 0.00
- Population evidence available
- Structural context available