A32S (p.Ala32Ser) variant of TMEM127 (Transmembrane protein 127)
A32S (p.Ala32Ser) 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; Hereditary pheochromocytoma and paragan. 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.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- rs770347064
- ClinGen CA1777400
- ClinVar RCV000553017
- ClinVar RCV002377064
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.36
- AlphaMissense 0.45
- MetaLR 0.32
- MetaSVM -0.50
- CADD 22.90
- PolyPhen-2 0.56
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- 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)