M1? variant of CHEK2 (O96017)
M1? in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
M1? variant details
- rs786203977
- ClinGen CA198495
- NCI-TCGA Cosmic COSV6042
- ClinVar RCV000167514
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- MetaLR 0.74
- MetaSVM 0.59
- PolyPhen-2 0.17
- SIFT 0.00
- MutPred 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)