N22D (p.Asn22Asp) variant of BLM (RecQ-like DNA helicase BLM)
N22D (p.Asn22Asp) 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 0.34 / 1. The record also includes published literature and structural context.
N22D (p.Asn22Asp) variant details
- p.Asn22Asp
- rs1370338581
- ClinGen CA393838935
- ClinVar RCV000819153
- ClinVar RCV001025340
- Uncertain significance
- Bloom syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.10
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.28
- SIFT 0.20
- MutPred 0.12
- 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)