M1I (p.Met1Ile) variant of TMEM127 (Transmembrane protein 127)
M1I (p.Met1Ile) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs121908814
- ClinGen CA269750
- ClinVar RCV000114827
- ClinVar RCV000566096
- Pathogenic
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- MetaLR 0.81
- MetaSVM 0.43
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic (Hereditary pheochromocytoma and paraganglioma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine… (PMID 20664475)