L25F (p.Leu25Phe) variant of BLM (RecQ-like DNA helicase BLM)
L25F (p.Leu25Phe) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- rs1276887266
- ClinGen CA393838963
- ClinVar RCV002394213
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0899
- REVEL 0.06
- CADD 9.97
- PolyPhen-2 0.01
- SIFT 0.08
- 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 2.7e-06)
- 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)