K25* (p.Lys25Ter) variant of TMEM127 (Transmembrane protein 127)
K25* (p.Lys25Ter) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
K25* (p.Lys25Ter) variant details
- p.Lys25Ter
- rs1573977924
- ClinGen CA347656169
- ClinVar RCV001026387
- ClinVar RCV002551958
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)