Q27* (p.Gln27Ter) variant of SOST (Sclerostin)
Q27* (p.Gln27Ter) in SOST (Sclerostin) is a protein-truncating change. Clinical records from UniProt describe it as sclerosteosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q27* (p.Gln27Ter) variant details
- p.Gln27Ter
- rs2154590473
- ClinGen CA399703324
- ClinVar RCV001843443
- Ensembl rs2154590473
- Sclerosteosis 1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 36.00
- UniProt: Sclerosteosis 1
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: SOST-Related Sclerosing Bone Dysplasias. (PMID 36508511)