S33L (p.Ser33Leu) variant of BLM (RecQ-like DNA helicase BLM)
S33L (p.Ser33Leu) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Bloom syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S33L (p.Ser33Leu) variant details
- p.Ser33Leu
- rs139282091
- ClinGen CA157400
- NCI-TCGA Cosmic COSV9904
- cosmic curated COSV99049
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0867
- REVEL 0.03
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Bloom syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- 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)