K650M (p.Lys650Met) variant of FGFR3 (P22607)
K650M (p.Lys650Met) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Colorectal cancer; Hypochondroplasia; Muenke syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
K650M (p.Lys650Met) variant details
- p.Lys650Met
- rs121913105
- ClinGen CA126382
- cosmic curated COSV53391
- ClinVar RCV000017750
- Pathogenic
- Colorectal cancer; Hypochondroplasia; Muenke syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.98
- MetaLR 0.58
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Colorectal cancer; Hypochondroplasia; Muenke syndrome)
- EBI: Pathogenic (in KERSEB, ACH, TD1 and SADDAN)
- UniProt: Pathogenic (in KERSEB, ACH, TD1 and SADDAN)
- Structural context available
- Cited in: A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the… (PMID 10053006)
- Cited in: Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric… (PMID 10671061)