E24R (p.Glu24Arg) variant of ATP6V1B1 (P15313)
E24R (p.Glu24Arg) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E24R (p.Glu24Arg) variant details
- p.Glu24Arg
- rs1405534436
- gnomAD 2-70936021-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 18.40
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available