R87C (p.Arg87Cys) variant of SOST (Sclerostin)
R87C (p.Arg87Cys) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R87C (p.Arg87Cys) variant details
- p.Arg87Cys
- gnomAD 17-43755725-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.70
- CADD 32.00
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available