E39K (p.Glu39Lys) variant of SOST (Sclerostin)
E39K (p.Glu39Lys) in SOST (Sclerostin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- ExAC rs762683331
- TOPMed rs762683331
- gnomAD rs762683331
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.21
- CADD 20.90
- PolyPhen-2 0.12
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available