R14G (p.Arg14Gly) variant of TMEM127 (Transmembrane protein 127)
R14G (p.Arg14Gly) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- rs1684395815
- ClinGen CA347656256
- ClinVar RCV001940832
- ClinVar RCV003167351
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- AlphaMissense 0.14
- MetaLR 0.33
- MetaSVM -0.50
- PolyPhen-2 0.11
- SIFT 0.00
- MutPred 0.23
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)