K650E (p.Lys650Glu) variant of FGFR3 (P22607)
K650E (p.Lys650Glu) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thanatophoric dysplasia, type 2; not provided; Malignant tumor of urinary bladde. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
K650E (p.Lys650Glu) variant details
- p.Lys650Glu
- rs78311289
- Civic 1400
- ClinGen CA126376
- cosmic curated COSV53390
- Uncertain significance
- Thanatophoric dysplasia, type 2; not provided; Malignant tumor of urinary bladde
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.98
- MetaLR 0.56
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Uncertain significance (FGFR3-related chondrodysplasia)
- EBI: Pathogenic (in KERSEB, TD2, TGCT and BLC)
- UniProt: Pathogenic (in KERSEB, TD2, TGCT and BLC)
- Structural context available
- Cited in: Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. (PMID 10471491)
- Cited in: Identification of tyrosine residues in constitutively activated fibroblast growth factor receptor 3 involved in… (PMID 11294897)