C102Y (p.Cys102Tyr) variant of AQP7 (Aquaporin-7)
C102Y (p.Cys102Tyr) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C102Y (p.Cys102Tyr) variant details
- p.Cys102Tyr
- gnomAD rs1468629772
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.51
- CADD 25.80
- PolyPhen-2 0.69
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available