D12N (p.Asp12Asn) variant of MAX (Protein max)
D12N (p.Asp12Asn) in MAX (Protein max) 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 0.77 / 1. The record also includes published literature and structural context.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- rs2063874476
- ClinGen CA390038931
- ClinVar RCV002041672
- Ensembl rs2063874476
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.61
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.09
- SIFT 0.01
- MutPred 0.26
- 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)