A3G (p.Ala3Gly) variant of TMEM127 (Transmembrane protein 127)
A3G (p.Ala3Gly) 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 cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- rs1553437754
- ClinGen CA347656349
- ClinVar RCV002376341
- ClinVar RCV003103550
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- AlphaMissense 0.16
- MetaLR 0.77
- MetaSVM 0.36
- PolyPhen-2 0.01
- SIFT 0.02
- MutPred 0.29
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- 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)