M1L (p.Met1Leu) variant of TMEM127 (Transmembrane protein 127)
M1L (p.Met1Leu) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1553437759
- ClinGen CA347656381
- ClinVar RCV001221200
- ClinVar RCV005749753
- Pathogenic
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- MetaLR 0.77
- MetaSVM 0.37
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Hereditary pheochromocytoma and paraganglioma)
- 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: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)