N71K (p.Asn71Lys) variant of AQP7 (Aquaporin-7)
N71K (p.Asn71Lys) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
N71K (p.Asn71Lys) variant details
- p.Asn71Lys
- ExAC rs781616926
- gnomAD rs781616926
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.70
- CADD 23.00
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available