D23V (p.Asp23Val) variant of MAX (Protein max)
D23V (p.Asp23Val) 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 0.76 / 1. The record also includes published literature and structural context.
D23V (p.Asp23Val) variant details
- p.Asp23Val
- rs2139887283
- ClinGen CA390037829
- ClinVar RCV002650142
- Ensembl rs2139887283
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.89
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.69
- SIFT 0.05
- EVE 0.28
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance (in PCC)
- UniProt: Uncertain significance (in PCC)
- 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)