H83Q (p.His83Gln) variant of AQP7 (Aquaporin-7)
H83Q (p.His83Gln) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H83Q (p.His83Gln) variant details
- p.His83Gln
- ESP rs375803801
- ExAC rs375803801
- TOPMed rs375803801
- gnomAD rs375803801
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.12
- CADD 13.70
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available