R13C (p.Arg13Cys) variant of TMEM127 (Transmembrane protein 127)
R13C (p.Arg13Cys) 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; Pheochromocytoma; Hereditary pheochromo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- rs1684395977
- ClinGen CA347656263
- ClinVar RCV002355167
- ClinVar RCV003475343
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Hereditary pheochromo
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.31
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Hered)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- 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)