C94R (p.Cys94Arg) variant of SOST (Sclerostin)
C94R (p.Cys94Arg) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C94R (p.Cys94Arg) variant details
- p.Cys94Arg
- gnomAD 17-43755704-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.90
- MetaLR 0.72
- MetaSVM 0.55
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available