T79I (p.Thr79Ile) variant of AQP7 (Aquaporin-7)
T79I (p.Thr79Ile) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T79I (p.Thr79Ile) variant details
- p.Thr79Ile
- ExAC rs750256339
- TOPMed rs750256339
- gnomAD rs750256339
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.47
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available