E82* (p.Glu82Ter) variant of SOST (Sclerostin)
E82* (p.Glu82Ter) in SOST (Sclerostin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E82* (p.Glu82Ter) variant details
- p.Glu82Ter
- gnomAD 17-43755740-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available