R17K (p.Arg17Lys) variant of MAX (Protein max)
R17K (p.Arg17Lys) 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 0.63 / 1. The record also includes published literature and structural context.
R17K (p.Arg17Lys) variant details
- p.Arg17Lys
- rs1309179207
- ClinGen CA390038754
- ClinVar RCV003879373
- gnomAD rs1309179207
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- AlphaMissense 0.45
- MetaLR 0.91
- MetaSVM 1.10
- PolyPhen-2 0.02
- SIFT 0.09
- EVE 0.10
- 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)