S21R (p.Ser21Arg) variant of TMEM127 (Transmembrane protein 127)
S21R (p.Ser21Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
S21R (p.Ser21Arg) variant details
- p.Ser21Arg
- rs1573977946
- Ensembl rs1573977946
- ClinGen CA347656189
- ClinVar RCV001201544
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.43
- MetaLR 0.22
- MetaSVM -0.90
- PolyPhen-2 0.13
- SIFT 0.07
- EVE 0.05
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Likely benign
- UniProt: Likely benign
- 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)