S21C (p.Ser21Cys) variant of TMEM127 (Transmembrane protein 127)
S21C (p.Ser21Cys) 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; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S21C (p.Ser21Cys) variant details
- p.Ser21Cys
- rs2467285981
- ClinGen CA347656194
- ClinVar RCV003466447
- ClinVar RCV006473253
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.29
- CADD 23.60
- PolyPhen-2 0.42
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine… (PMID 20664475)