R15L (p.Arg15Leu) variant of TMEM127 (Transmembrane protein 127)
R15L (p.Arg15Leu) 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 not provided; Hereditary cancer-predisposing syndrome; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- rs2104308338
- ClinGen CA347656242
- ClinVar RCV001977883
- ClinVar RCV003464345
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.43
- CADD 24.00
- PolyPhen-2 0.13
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Pheochrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- 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)