R58W (p.Arg58Trp) variant of SOST (Sclerostin)
R58W (p.Arg58Trp) 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 0.60 / 1. The record also includes population frequency data and structural context.
R58W (p.Arg58Trp) variant details
- p.Arg58Trp
- rs750840300
- NCI-TCGA Cosmic COSV5701
- ExAC rs750840300
- TOPMed rs750840300
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.64
- CADD 29.70
- PolyPhen-2 0.87
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available