E39Q (p.Glu39Gln) variant of SOST (Sclerostin)
E39Q (p.Glu39Gln) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- ExAC rs762683331
- TOPMed rs762683331
- gnomAD rs762683331
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.18
- CADD 18.70
- PolyPhen-2 0.24
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available