D43E (p.Asp43Glu) variant of ATP1A1 (P05023)
D43E (p.Asp43Glu) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- gnomAD rs1354383018
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.37
- MetaLR 0.22
- MetaSVM -0.92
- CADD 15.40
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 0.0012)
- Structural context available