L9R (p.Leu9Arg) variant of TMEM127 (Transmembrane protein 127)
L9R (p.Leu9Arg) 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 0.55 / 1. The record also includes published literature and structural context.
L9R (p.Leu9Arg) variant details
- p.Leu9Arg
- rs2104308474
- ClinGen CA347656294
- ClinVar RCV003288252
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM 0.25
- PolyPhen-2 0.43
- SIFT 0.06
- MutPred 0.22
- 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)