E34K (p.Glu34Lys) variant of ATP1A1 (P05023)
E34K (p.Glu34Lys) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- TOPMed rs1245475227
- gnomAD rs1245475227
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.72
- MetaLR 0.72
- MetaSVM 0.59
- CADD 26.30
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00066)
- Structural context available