G19* (p.Gly19Ter) variant of TMEM127 (Transmembrane protein 127)
G19* (p.Gly19Ter) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G19* (p.Gly19Ter) variant details
- p.Gly19Ter
- rs774322340
- ClinGen CA347656206
- ClinVar RCV003219129
- ClinVar RCV005505637
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.839
- CADD 35.00
- 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)