E82D (p.Glu82Asp) variant of SOST (Sclerostin)
E82D (p.Glu82Asp) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E82D (p.Glu82Asp) variant details
- p.Glu82Asp
- gnomAD 17-43755738-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.66
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available