A3V (p.Ala3Val) variant of TMEM127 (Transmembrane protein 127)
A3V (p.Ala3Val) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs1553437754
- ClinGen CA347656347
- ClinVar RCV000538248
- ClinVar RCV005286116
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.37
- AlphaMissense 0.16
- MetaLR 0.77
- MetaSVM 0.36
- CADD 24.50
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)