C80Y (p.Cys80Tyr) variant of SOST (Sclerostin)
C80Y (p.Cys80Tyr) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C80Y (p.Cys80Tyr) variant details
- p.Cys80Tyr
- gnomAD 17-43755745-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.90
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available