T79A (p.Thr79Ala) variant of AQP7 (Aquaporin-7)
T79A (p.Thr79Ala) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T79A (p.Thr79Ala) variant details
- p.Thr79Ala
- gnomAD rs1215848555
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.06
- CADD 16.20
- PolyPhen-2 0.17
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available