A22G (p.Ala22Gly) variant of TMEM127 (Transmembrane protein 127)
A22G (p.Ala22Gly) 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 0.37 / 1. The record also includes published literature and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- rs1573977937
- ClinGen CA347656184
- ClinVar RCV003633872
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 0.10
- MetaLR 0.33
- MetaSVM -0.61
- PolyPhen-2 0.12
- SIFT 0.19
- EVE 0.09
- 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)