G49G (p.Gly49Gly) variant of ATP6V1B1 (P15313)
G49G (p.Gly49Gly) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G49G (p.Gly49Gly) variant details
- p.Gly49Gly
- gnomAD 2-70943686-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 8.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available