D68E (p.Asp68Glu) variant of ATP1A2 (P50993)
D68E (p.Asp68Glu) in ATP1A2 (P50993) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D68E (p.Asp68Glu) variant details
- p.Asp68Glu
- ExAC rs745431386
- TOPMed rs745431386
- gnomAD rs745431386
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.17
- CADD 8.27
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available