A7V (p.Ala7Val) variant of TMEM127 (Transmembrane protein 127)
A7V (p.Ala7Val) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs1357430519
- ClinGen CA347656312
- ClinVar RCV001346570
- TOPMed rs1357430519
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.34
- AlphaMissense 0.10
- MetaLR 0.70
- MetaSVM 0.11
- CADD 23.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)