D12Y (p.Asp12Tyr) variant of MAX (Protein max)
D12Y (p.Asp12Tyr) in MAX (Protein max) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Hereditary pheochromocytoma and paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D12Y (p.Asp12Tyr) variant details
- p.Asp12Tyr
- rs2063874476
- ClinGen CA390038928
- ClinVar RCV001054748
- ClinVar RCV004789388
- Uncertain significance
- Pheochromocytoma; Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.76
- AlphaMissense 0.61
- MetaLR 0.98
- MetaSVM 1.04
- CADD 33.00
- PolyPhen-2 0.09
- ClinVar: Uncertain significance (Pheochromocytoma; Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)