P4S (p.Pro4Ser) variant of TMEM127 (Transmembrane protein 127)
P4S (p.Pro4Ser) 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 pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs1024081498
- ClinGen CA52419186
- ClinVar RCV000639346
- ClinVar RCV001017295
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.44
- AlphaMissense 0.07
- MetaLR 0.80
- MetaSVM 0.47
- CADD 22.70
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00025)
- 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)