A59V (p.Ala59Val) variant of SOST (Sclerostin)
A59V (p.Ala59Val) 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 0.75 / 1. The record also includes population frequency data and structural context.
A59V (p.Ala59Val) variant details
- p.Ala59Val
- rs541123476
- NCI-TCGA Cosmic COSV1000
- 1000Genomes rs541123476
- ExAC rs541123476
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.72
- CADD 28.30
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available