Q24* (p.Gln24Ter) variant of SOST (Sclerostin)
Q24* (p.Gln24Ter) in SOST (Sclerostin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- rs387906320
- ClinGen CA253289
- ClinVar RCV000005049
- ClinVar RCV005089173
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.847
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00013)
- Structural context available
- Cited in: Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. (PMID 11179006)
- Cited in: SOST-Related Sclerosing Bone Dysplasias. (PMID 36508511)