Y2H (p.Tyr2His) variant of TMEM127 (Transmembrane protein 127)
Y2H (p.Tyr2His) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Y2H (p.Tyr2His) variant details
- p.Tyr2His
- rs2104308652
- ClinGen CA347656368
- ClinVar RCV001368963
- Ensembl rs2104308652
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.50
- AlphaMissense 0.50
- MetaLR 0.82
- MetaSVM 0.87
- CADD 29.70
- PolyPhen-2 0.95
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)