A22T (p.Ala22Thr) variant of TMEM127 (Transmembrane protein 127)
A22T (p.Ala22Thr) 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 cancer-predisposing syndrome; Pheochromocytoma; Hereditary pheochromo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- rs1273425757
- ClinGen CA347656187
- ClinVar RCV000697252
- ClinVar RCV003303154
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Hereditary pheochromo
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.21
- AlphaMissense 0.09
- MetaLR 0.22
- MetaSVM -0.98
- CADD 21.00
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Hered)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)