S42P (p.Ser42Pro) variant of BLM (RecQ-like DNA helicase BLM)
S42P (p.Ser42Pro) 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; Bloom syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S42P (p.Ser42Pro) variant details
- p.Ser42Pro
- rs1291378382
- ClinGen CA393839378
- ClinVar RCV000575777
- ClinVar RCV000628623
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Bloom syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0572
- REVEL 0.04
- CADD 3.69
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Bloom syndrome; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- 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)