A2E (p.Ala2Glu) variant of SDHD (O14521)
A2E (p.Ala2Glu) in SDHD (O14521) 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 0.60 / 1. The record also includes published literature and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- rs1440670464
- ClinGen CA382616616
- ClinVar RCV004012458
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.24
- MetaLR 0.78
- MetaSVM 0.22
- PolyPhen-2 0.04
- SIFT 0.09
- MutPred 0.39
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)