H7Q (p.His7Gln) variant of AQP7 (Aquaporin-7)
H7Q (p.His7Gln) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
H7Q (p.His7Gln) variant details
- p.His7Gln
- 1000Genomes rs374964943
- ESP rs374964943
- ExAC rs374964943
- TOPMed rs374964943
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.13
- CADD 2.07
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available