P36S (p.Pro36Ser) variant of TMEM127 (Transmembrane protein 127)
P36S (p.Pro36Ser) 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 0.41 / 1. The record also includes published literature and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- rs2104308011
- ClinGen CA347656104
- ClinVar RCV003181667
- ClinVar RCV003633686
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.92
- MetaLR 0.44
- MetaSVM -0.08
- PolyPhen-2 0.99
- SIFT 0.10
- EVE 0.07
- 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)