D6D (p.Asp6Asp) variant of ATP6V1B1 (P15313)
D6D (p.Asp6Asp) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D6D (p.Asp6Asp) variant details
- p.Asp6Asp
- rs2104795225
- gnomAD 2-70935972-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 10.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available