D44V (p.Asp44Val) variant of BLM (RecQ-like DNA helicase BLM)
D44V (p.Asp44Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
D44V (p.Asp44Val) variant details
- p.Asp44Val
- rs1895600607
- ClinGen CA393839404
- ClinVar RCV002385644
- Uncertain significance
- Hereditary cancer-predisposing 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)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)