C94Y (p.Cys94Tyr) variant of SOST (Sclerostin)
C94Y (p.Cys94Tyr) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C94Y (p.Cys94Tyr) variant details
- p.Cys94Tyr
- gnomAD 17-43755703-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.90
- MetaLR 0.73
- MetaSVM 0.59
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available