E8E (p.Glu8Glu) variant of ATP1A2 (P50993)
E8E (p.Glu8Glu) in ATP1A2 (P50993) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E8E (p.Glu8Glu) variant details
- p.Glu8Glu
- rs1651373826
- gnomAD 1-160120917-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 7.55
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available