E28* (p.Glu28Ter) variant of TMEM127 (Transmembrane protein 127)
E28* (p.Glu28Ter) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- rs776127077
- ClinGen CA1777401
- ClinVar RCV002736802
- ExAC rs776127077
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.669
- AlphaMissense 0.92
- MetaLR 0.23
- MetaSVM -0.84
- CADD 36.00
- PolyPhen-2 0.15
- SIFT 0.15
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)