R38P (p.Arg38Pro) variant of ATP6V1B1 (P15313)
R38P (p.Arg38Pro) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R38P (p.Arg38Pro) variant details
- p.Arg38Pro
- rs1679843325
- gnomAD 2-70936061-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 27.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available