L9V (p.Leu9Val) variant of BLM (RecQ-like DNA helicase BLM)
L9V (p.Leu9Val) 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 0.58 / 1. The record also includes published literature and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- rs1596215640
- ClinGen CA393838813
- NCI-TCGA Cosmic COSV6192
- ClinVar RCV001016066
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 0.48
- MetaLR 0.58
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)