N46K (p.Asn46Lys) variant of BLM (RecQ-like DNA helicase BLM)
N46K (p.Asn46Lys) 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 0.32 / 1. The record also includes published literature and structural context.
N46K (p.Asn46Lys) variant details
- p.Asn46Lys
- rs1895600929
- ClinGen CA393839438
- ClinVar RCV001051814
- ClinVar RCV002393260
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.12
- MetaLR 0.09
- MetaSVM -1.02
- PolyPhen-2 0.02
- SIFT 0.04
- MutPred 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Bloom syn)
- EBI: Likely benign
- UniProt: Likely benign
- 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)