Y78H (p.Tyr78His) variant of SOST (Sclerostin)
Y78H (p.Tyr78His) 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.
Y78H (p.Tyr78His) variant details
- p.Tyr78His
- gnomAD 17-43755752-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.40
- CADD 25.50
- PolyPhen-2 0.82
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available