E8K (p.Glu8Lys) variant of ATP1A2 (P50993)
E8K (p.Glu8Lys) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- gnomAD rs1469623974
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.30
- CADD 22.10
- PolyPhen-2 0.10
- SIFT 0.20
- Population evidence available
- Structural context available