E590K (p.Glu590Lys) variant of NTRK1 (P04629)
E590K (p.Glu590Lys) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
E590K (p.Glu590Lys) variant details
- p.Glu590Lys
- rs1647927494
- ClinGen CA342938663
- ClinVar RCV001257443
- ClinVar RCV005094229
- Pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Medullary thyroid cancer: management guidelines of the American Thyroid Association. (PMID 19469690)