A38S (p.Ala38Ser) variant of TMEM127 (Transmembrane protein 127)
A38S (p.Ala38Ser) 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 Pheochromocytoma; Hereditary pheochromocytoma and paraganglioma; Hereditary canc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- rs1456398772
- ClinGen CA347656090
- ClinVar RCV001071122
- ClinVar RCV002320353
- Uncertain significance
- Pheochromocytoma; Hereditary pheochromocytoma and paraganglioma; Hereditary canc
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.39
- CADD 23.10
- PolyPhen-2 0.20
- SIFT 0.06
- ClinVar: Uncertain significance (Pheochromocytoma; Hereditary pheochromocytoma and paraganglioma;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)