E82K (p.Glu82Lys) variant of SOST (Sclerostin)
E82K (p.Glu82Lys) in SOST (Sclerostin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E82K (p.Glu82Lys) variant details
- p.Glu82Lys
- rs1482371714
- gnomAD rs1482371714
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.80
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available