L40H (p.Leu40His) variant of SOST (Sclerostin)
L40H (p.Leu40His) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L40H (p.Leu40His) variant details
- p.Leu40His
- ExAC rs774959099
- gnomAD rs774959099
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.24
- CADD 23.40
- PolyPhen-2 0.77
- SIFT 0.49
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available