H7N (p.His7Asn) variant of AQP7 (Aquaporin-7)
H7N (p.His7Asn) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H7N (p.His7Asn) variant details
- p.His7Asn
- TOPMed rs959914653
- gnomAD rs959914653
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.12
- CADD 7.07
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available