T44A (p.Thr44Ala) variant of AQP7 (Aquaporin-7)
T44A (p.Thr44Ala) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T44A (p.Thr44Ala) variant details
- p.Thr44Ala
- ExAC rs776199160
- gnomAD rs776199160
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.42
- CADD 25.80
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available