M1L (p.Met1Leu) variant of ATM (Serine-protein kinase ATM)
M1L (p.Met1Leu) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs730881359
- ClinGen CA382518883
- ClinVar RCV004440130
- Pathogenic
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- MetaLR 0.09
- MetaSVM -0.99
- PolyPhen-2 0.74
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Familial cancer of breast)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)