C45C (p.Cys45Cys) variant of ATP6V1B1 (P15313)
C45C (p.Cys45Cys) in ATP6V1B1 (P15313) is a synonymous 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.
C45C (p.Cys45Cys) variant details
- p.Cys45Cys
- rs782078912
- gnomAD 2-70943674-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 13.70
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available