A100T (p.Ala100Thr) variant of AQP7 (Aquaporin-7)
A100T (p.Ala100Thr) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A100T (p.Ala100Thr) variant details
- p.Ala100Thr
- cosmic curated COSV53003
- 1000Genomes rs77962308
- ExAC rs77962308
- gnomAD rs77962308
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.37
- CADD 0.05
- PolyPhen-2 0.02
- SIFT 1.00
- Population evidence available
- Structural context available