V65L (p.Val65Leu) variant of BLM (RecQ-like DNA helicase BLM)
V65L (p.Val65Leu) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V65L (p.Val65Leu) variant details
- p.Val65Leu
- rs1895603124
- ClinGen CA393839666
- ClinVar RCV003172624
- Ensembl rs1895603124
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.14
- CADD 21.60
- PolyPhen-2 0.15
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)