G11D (p.Gly11Asp) variant of TMEM127 (Transmembrane protein 127)
G11D (p.Gly11Asp) 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 published literature and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- rs773493345
- ClinGen CA347656278
- ClinVar RCV001918881
- ExAC rs773493345
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.33
- MetaLR 0.65
- MetaSVM 0.38
- PolyPhen-2 0.65
- SIFT 0.01
- MutPred 0.13
- 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)