E45K (p.Glu45Lys) variant of SOST (Sclerostin)
E45K (p.Glu45Lys) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- ExAC rs773071580
- gnomAD rs773071580
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.08
- CADD 15.70
- PolyPhen-2 0.02
- SIFT 0.50
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available