Y78* (p.Tyr78Ter) variant of SOST (Sclerostin)
Y78* (p.Tyr78Ter) in SOST (Sclerostin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Y78* (p.Tyr78Ter) variant details
- p.Tyr78Ter
- gnomAD 17-43755750-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available