R14W (p.Arg14Trp) variant of TMEM127 (Transmembrane protein 127)
R14W (p.Arg14Trp) 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 pheochromocytoma and paraganglioma. 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.
R14W (p.Arg14Trp) variant details
- p.Arg14Trp
- rs1684395815
- ClinGen CA347656255
- ClinVar RCV003634339
- gnomAD rs1684395815
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.47
- AlphaMissense 0.14
- MetaLR 0.33
- MetaSVM -0.50
- CADD 28.00
- PolyPhen-2 0.11
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3e-05)
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine… (PMID 20664475)