Y2D (p.Tyr2Asp) variant of TMEM127 (Transmembrane protein 127)
Y2D (p.Tyr2Asp) 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 0.74 / 1. The record also includes published literature and structural context.
Y2D (p.Tyr2Asp) variant details
- p.Tyr2Asp
- rs2104308652
- ClinGen CA347656366
- ClinVar RCV002343066
- ClinVar RCV003102671
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.50
- MetaLR 0.82
- MetaSVM 0.87
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.22
- 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)