M1L (p.Met1Leu) variant of PALB2 (Partner and localizer of BRCA2)
M1L (p.Met1Leu) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs879254144
- ClinGen CA395141291
- ClinVar RCV002417103
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- MetaLR 0.13
- MetaSVM -0.93
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.99
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely 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)