V54I (p.Val54Ile) variant of BLM (RecQ-like DNA helicase BLM)
V54I (p.Val54Ile) 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 0.36 / 1. The record also includes published literature and structural context.
V54I (p.Val54Ile) variant details
- p.Val54Ile
- rs2151146756
- ClinGen CA393839514
- cosmic curated COSV61923
- ClinVar RCV004516720
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.80
- PolyPhen-2 0.06
- SIFT 0.07
- MutPred 0.15
- 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)