R19H (p.Arg19His) variant of SOST (Sclerostin)
R19H (p.Arg19His) in SOST (Sclerostin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Sclerosteosis 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- rs199514554
- ClinGen CA8592895
- ClinVar RCV001125281
- ClinVar RCV002070043
- Likely benign
- Sclerosteosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.14
- CADD 0.55
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Likely benign (Sclerosteosis 1; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available
- Cited in: SOST-Related Sclerosing Bone Dysplasias. (PMID 36508511)