S30I (p.Ser30Ile) variant of TMEM127 (Transmembrane protein 127)
S30I (p.Ser30Ile) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S30I (p.Ser30Ile) variant details
- p.Ser30Ile
- rs2104308085
- ClinGen CA347656134
- ClinVar RCV002011661
- Ensembl rs2104308085
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.62
- AlphaMissense 0.98
- MetaLR 0.50
- MetaSVM 0.07
- CADD 28.10
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-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)