K650N (p.Lys650Asn) variant of FGFR3 (P22607)
K650N (p.Lys650Asn) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR3-related chondrodysplasia; Severe achondroplasia-developmental delay-acanth. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
K650N (p.Lys650Asn) variant details
- p.Lys650Asn
- rs28928868
- ClinGen CA341419
- cosmic curated COSV53408
- ClinVar RCV000017755
- Pathogenic/Likely pathogenic
- FGFR3-related chondrodysplasia; Severe achondroplasia-developmental delay-acanth
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.66
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (FGFR3-related chondrodysplasia; Severe achondroplasia-developmen)
- 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: Achondroplasia. (PMID 20301331)