M1I (p.Met1Ile) variant of PALB2 (Partner and localizer of BRCA2)
M1I (p.Met1Ile) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Breast-ovarian cancer, familial, susceptibility to, 5; Hereditary cancer-predisp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1057517585
- ClinGen CA16042152
- ClinVar RCV000410696
- ClinVar RCV000505935
- Likely pathogenic
- Breast-ovarian cancer, familial, susceptibility to, 5; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- MetaLR 0.14
- MetaSVM -0.94
- PolyPhen-2 1.00
- SIFT 0.04
- MutPred 1.00
- ClinVar: Likely pathogenic (Familial cancer of breast)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)