S17R (p.Ser17Arg) variant of TMEM127 (Transmembrane protein 127)
S17R (p.Ser17Arg) 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. The record also includes published literature and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- rs2467286026
- ClinGen CA347656218
- ClinVar RCV003301479
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)