N71I (p.Asn71Ile) variant of AQP7 (Aquaporin-7)
N71I (p.Asn71Ile) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
N71I (p.Asn71Ile) variant details
- p.Asn71Ile
- ExAC rs746373896
- TOPMed rs746373896
- gnomAD rs746373896
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.73
- CADD 25.20
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available