G11C (p.Gly11Cys) variant of TMEM127 (Transmembrane protein 127)
G11C (p.Gly11Cys) 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 Acute promyelocytic leukemia; Hereditary pheochromocytoma and paraganglioma; Her. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- rs992633976
- ClinGen CA52419168
- ClinVar RCV000700061
- ClinVar RCV000761105
- Uncertain significance
- Acute promyelocytic leukemia; Hereditary pheochromocytoma and paraganglioma; Her
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 0.40
- SIFT 0.09
- ClinVar: Uncertain significance (Acute promyelocytic leukemia; Hereditary pheochromocytoma and pa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)