K51E (p.Lys51Glu) variant of AQP1 (Aquaporin-1)
K51E (p.Lys51Glu) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K51E (p.Lys51Glu) variant details
- p.Lys51Glu
- gnomAD 7-30912060-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.77
- MetaLR 0.62
- MetaSVM 0.21
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available