A28V (p.Ala28Val) variant of SOST (Sclerostin)
A28V (p.Ala28Val) 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 0.37 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs770960308
- NCI-TCGA Cosmic COSV5701
- ExAC rs770960308
- TOPMed rs770960308
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.24
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.49
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available