G37D (p.Gly37Asp) variant of TMEM127 (Transmembrane protein 127)
G37D (p.Gly37Asp) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G37D (p.Gly37Asp) variant details
- p.Gly37Asp
- rs1684393209
- ClinGen CA347656093
- ClinVar RCV003149192
- ClinVar RCV003164869
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.71
- CADD 27.70
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Pheochrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)