E48E (p.Glu48Glu) variant of ATP1A2 (P50993)
E48E (p.Glu48Glu) in ATP1A2 (P50993) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- gnomAD 1-160121218-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 9.91
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available