A103T (p.Ala103Thr) variant of AQP7 (Aquaporin-7)
A103T (p.Ala103Thr) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A103T (p.Ala103Thr) variant details
- p.Ala103Thr
- gnomAD rs1256940846
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.25
- CADD 11.20
- PolyPhen-2 0.12
- SIFT 0.16
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available