S28* (p.Ser28Ter) variant of BLM (RecQ-like DNA helicase BLM)
S28* (p.Ser28Ter) in BLM (RecQ-like DNA helicase BLM) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S28* (p.Ser28Ter) variant details
- p.Ser28Ter
- rs2151145090
- ClinGen CA393838988
- ClinVar RCV004521617
- ClinGen CA393838990
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)