E49* (p.Glu49Ter) variant of ATP6V1A (P38606)
E49* (p.Glu49Ter) in ATP6V1A (P38606) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- gnomAD 3-113781112-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available