K650Q (p.Lys650Gln) variant of FGFR3 (P22607)
K650Q (p.Lys650Gln) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR3-related chondrodysplasia; not provided; Hypochondroplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K650Q (p.Lys650Gln) variant details
- p.Lys650Gln
- rs78311289
- ClinGen CA170755
- cosmic curated COSV53407
- ClinVar RCV000017757
- Pathogenic
- FGFR3-related chondrodysplasia; not provided; Hypochondroplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.77
- AlphaMissense 0.98
- MetaLR 0.56
- MetaSVM 0.23
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (FGFR3-related chondrodysplasia; not provided; Hypochondroplasia)
- EBI: Pathogenic (in hypochondroplasia and BLC)
- UniProt: Pathogenic (in hypochondroplasia and BLC)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the… (PMID 11055896)
- Cited in: Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. (PMID 11314002)