E322K (p.Glu322Lys) variant of FGFR3 (P22607)
E322K (p.Glu322Lys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carcinoma of colon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
E322K (p.Glu322Lys) variant details
- p.Glu322Lys
- rs121913111
- ClinGen CA250656
- cosmic curated COSV53412
- ClinVar RCV000017761
- Pathogenic
- Carcinoma of colon
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.94
- MetaLR 0.26
- MetaSVM -0.39
- PolyPhen-2 0.06
- SIFT 0.01
- EVE 0.44
- ClinVar: Pathogenic (Carcinoma of colon)
- EBI: Pathogenic (in colorectal cancer)
- UniProt: Pathogenic (in colorectal cancer)
- Structural context available
- Cited in: Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human… (PMID 11325814)
- Cited in: Identification and characterization of soluble isoform of fibroblast growth factor receptor 3 in human SaOS-2… (PMID 11906172)