T20I (p.Thr20Ile) variant of BLM (RecQ-like DNA helicase BLM)
T20I (p.Thr20Ile) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T20I (p.Thr20Ile) variant details
- p.Thr20Ile
- rs1895534435
- ClinGen CA393838927
- ClinVar RCV002357953
- gnomAD rs1895534435
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- CADD 11.50
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)