C94F (p.Cys94Phe) variant of SOST (Sclerostin)
C94F (p.Cys94Phe) 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.
C94F (p.Cys94Phe) variant details
- p.Cys94Phe
- gnomAD 17-43755703-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.90
- MetaLR 0.73
- MetaSVM 0.59
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available