E17K (p.Glu17Lys) variant of AQP1 (Aquaporin-1)
E17K (p.Glu17Lys) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- ExAC rs771328144
- gnomAD rs771328144
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.93
- MetaLR 0.98
- MetaSVM 1.04
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available