C80* (p.Cys80Ter) variant of SOST (Sclerostin)
C80* (p.Cys80Ter) in SOST (Sclerostin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
C80* (p.Cys80Ter) variant details
- p.Cys80Ter
- gnomAD 17-43755744-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available