S30N (p.Ser30Asn) variant of TMEM127 (Transmembrane protein 127)
S30N (p.Ser30Asn) 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 0.45 / 1. The record also includes published literature and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- rs2104308085
- ClinGen CA347656136
- ClinVar RCV002805432
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- AlphaMissense 0.98
- MetaLR 0.50
- MetaSVM 0.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.16
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)