D41E (p.Asp41Glu) variant of ATP1A2 (P50993)
D41E (p.Asp41Glu) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D41E (p.Asp41Glu) variant details
- p.Asp41Glu
- TOPMed rs1439633790
- gnomAD rs1439633790
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.28
- CADD 17.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available