C80F (p.Cys80Phe) variant of SOST (Sclerostin)
C80F (p.Cys80Phe) 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.
C80F (p.Cys80Phe) variant details
- p.Cys80Phe
- gnomAD 17-43755745-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.88
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available