E49E (p.Glu49Glu) variant of ATP6V1A (P38606)
E49E (p.Glu49Glu) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E49E (p.Glu49Glu) variant details
- p.Glu49Glu
- rs1190593959
- gnomAD 3-113781114-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 11.40
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available