P27S (p.Pro27Ser) variant of TMEM127 (Transmembrane protein 127)
P27S (p.Pro27Ser) 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; Hereditary pheochromocytoma and paragan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- rs2104308146
- ClinGen CA347656154
- ClinVar RCV003060201
- ClinVar RCV004676119
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- 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)