E22D (p.Glu22Asp) variant of SOST (Sclerostin)
E22D (p.Glu22Asp) 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 0.27 / 1. The record also includes population frequency data and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- ExAC rs775073017
- NCI-TCGA Cosmic COSV5701
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.25
- CADD 18.60
- PolyPhen-2 0.58
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available