Y78C (p.Tyr78Cys) variant of SOST (Sclerostin)
Y78C (p.Tyr78Cys) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Y78C (p.Tyr78Cys) variant details
- p.Tyr78Cys
- gnomAD 17-43755751-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.51
- CADD 25.10
- PolyPhen-2 0.86
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available