Q26R (p.Gln26Arg) variant of TMEM127 (Transmembrane protein 127)
Q26R (p.Gln26Arg) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar 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 0.51 / 1. The record also includes population frequency data and structural context.
Q26R (p.Gln26Arg) variant details
- p.Gln26Arg
- cosmic curated COSV51496
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.43
- CADD 24.00
- PolyPhen-2 0.55
- SIFT 0.58
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available