S17G (p.Ser17Gly) variant of TMEM127 (Transmembrane protein 127)
S17G (p.Ser17Gly) 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; Pheochromocytoma; Hereditary pheochromo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S17G (p.Ser17Gly) variant details
- p.Ser17Gly
- rs1249001227
- ClinGen CA347656228
- ClinVar RCV001053544
- ClinVar RCV002339269
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Hereditary pheochromo
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.33
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Hered)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00027)
- 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)