R81L (p.Arg81Leu) variant of SOST (Sclerostin)
R81L (p.Arg81Leu) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R81L (p.Arg81Leu) variant details
- p.Arg81Leu
- gnomAD 17-43755742-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.71
- CADD 25.40
- PolyPhen-2 0.38
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available