A32T (p.Ala32Thr) variant of TMEM127 (Transmembrane protein 127)
A32T (p.Ala32Thr) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs770347064
- ClinGen CA347656126
- ClinVar RCV001362729
- ExAC rs770347064
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.35
- AlphaMissense 0.45
- MetaLR 0.32
- MetaSVM -0.50
- CADD 23.00
- PolyPhen-2 0.56
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- 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)