G6V (p.Gly6Val) variant of TMEM127 (Transmembrane protein 127)
G6V (p.Gly6Val) 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; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- rs2467286322
- ClinGen CA347656322
- ClinVar RCV003104191
- ClinVar RCV004572845
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.56
- CADD 23.90
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma)
- 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)