D49E (p.Asp49Glu) variant of ATP1A1 (P05023)
D49E (p.Asp49Glu) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D49E (p.Asp49Glu) variant details
- p.Asp49Glu
- Ensembl rs1651973996
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.27
- MetaLR 0.07
- MetaSVM -1.00
- CADD 12.80
- SIFT 0.78
- Most common in the Amish population (allele frequency 0.17)
- Structural context available