G5* (p.Gly5Ter) variant of TMEM127 (Transmembrane protein 127)
G5* (p.Gly5Ter) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G5* (p.Gly5Ter) variant details
- p.Gly5Ter
- rs786202314
- ClinGen CA347656335
- ClinVar RCV003828082
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- 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)