D44G (p.Asp44Gly) variant of BLM (RecQ-like DNA helicase BLM)
D44G (p.Asp44Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
D44G (p.Asp44Gly) variant details
- p.Asp44Gly
- rs1895600607
- ClinGen CA393839406
- ClinVar RCV001240527
- ClinVar RCV006372350
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.85
- MutPred 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Bloom 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)