E4G (p.Glu4Gly) variant of ATP6V1B1 (P15313)
E4G (p.Glu4Gly) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E4G (p.Glu4Gly) variant details
- p.Glu4Gly
- rs781974215
- gnomAD 2-70935961-ATGGAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 26.70
- Population evidence available
- Structural context available
- Literature evidence available