K3E (p.Lys3Glu) variant of ATP1A1 (P05023)
K3E (p.Lys3Glu) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K3E (p.Lys3Glu) variant details
- p.Lys3Glu
- gnomAD 1-116373518-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.34
- CADD 21.00
- PolyPhen-2 0.02
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available