Q6P (p.Gln6Pro) variant of BLM (RecQ-like DNA helicase BLM)
Q6P (p.Gln6Pro) 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 Bloom syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
Q6P (p.Gln6Pro) variant details
- p.Gln6Pro
- rs1248128883
- ClinGen CA393838782
- ClinVar RCV000803339
- ClinVar RCV005520349
- Uncertain significance
- Bloom syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.69
- PolyPhen-2 0.18
- SIFT 0.05
- MutPred 0.15
- ClinVar: Uncertain significance (Bloom syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)