D32E (p.Asp32Glu) variant of SOST (Sclerostin)
D32E (p.Asp32Glu) 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 0.47 / 1. The record also includes population frequency data and structural context.
D32E (p.Asp32Glu) variant details
- p.Asp32Glu
- rs1249296225
- TOPMed rs1249296225
- gnomAD rs1249296225
- NCI-TCGA Cosmic COSV5701
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.63
- CADD 22.50
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available