M1L (p.Met1Leu) variant of CHEK2 (O96017)
M1L (p.Met1Leu) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial cancer of breast; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs863224748
- ClinGen CA411092191
- ClinVar RCV001322999
- ClinVar RCV002418968
- Conflicting interpretations
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- MetaLR 0.66
- MetaSVM 0.38
- PolyPhen-2 0.08
- SIFT 0.00
- MutPred 0.99
- ClinVar: Conflicting classifications of pathogenicity (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- 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)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)