S76C (p.Ser76Cys) variant of SOST (Sclerostin)
S76C (p.Ser76Cys) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S76C (p.Ser76Cys) variant details
- p.Ser76Cys
- gnomAD 17-43755757-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.37
- CADD 27.30
- PolyPhen-2 0.91
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available