P4L (p.Pro4Leu) variant of TMEM127 (Transmembrane protein 127)
P4L (p.Pro4Leu) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan. The record also includes structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- cosmic curated COSV51498
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- UniProt: Uncertain significance
- Structural context available