L83Q (p.Leu83Gln) variant of SOST (Sclerostin)
L83Q (p.Leu83Gln) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L83Q (p.Leu83Gln) variant details
- p.Leu83Gln
- gnomAD 17-43755736-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available