N71S (p.Asn71Ser) variant of AQP7 (Aquaporin-7)
N71S (p.Asn71Ser) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
N71S (p.Asn71Ser) variant details
- p.Asn71Ser
- ExAC rs746373896
- TOPMed rs746373896
- gnomAD rs746373896
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.49
- CADD 24.00
- PolyPhen-2 0.58
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available