Q26* (p.Gln26Ter) variant of TMEM127 (Transmembrane protein 127)
Q26* (p.Gln26Ter) in TMEM127 (Transmembrane protein 127) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q26* (p.Gln26Ter) variant details
- p.Gln26Ter
- rs121908815
- ClinGen CA269764
- ClinVar RCV000114835
- ClinVar RCV003517136
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.847
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)