M1V (p.Met1Val) variant of CHEK2 (O96017)
M1V (p.Met1Val) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs863224748
- ClinGen CA335740
- ClinVar RCV000195519
- ClinVar RCV000570536
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- 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 (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)