A34T (p.Ala34Thr) variant of TMEM127 (Transmembrane protein 127)
A34T (p.Ala34Thr) 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 0.56 / 1. The record also includes published literature and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- rs1553437740
- ClinGen CA347656115
- ClinVar RCV000536078
- ClinVar RCV002438352
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 0.98
- MetaLR 0.55
- MetaSVM 0.17
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.55
- 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)