S66N (p.Ser66Asn) variant of AQP7 (Aquaporin-7)
S66N (p.Ser66Asn) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S66N (p.Ser66Asn) variant details
- p.Ser66Asn
- TOPMed rs1384802325
- gnomAD rs1384802325
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.03
- CADD 11.40
- PolyPhen-2 0.12
- SIFT 0.06
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available