R81H (p.Arg81His) variant of SOST (Sclerostin)
R81H (p.Arg81His) 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.
R81H (p.Arg81His) variant details
- p.Arg81His
- gnomAD 17-43755742-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.69
- CADD 29.70
- PolyPhen-2 0.76
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available