N540K (p.Asn540Lys) variant of FGFR3 (P22607)
N540K (p.Asn540Lys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Connective tissue disorder; FGFR3-related chondrodysplasia; Carcinoma of colon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
N540K (p.Asn540Lys) variant details
- p.Asn540Lys
- rs28933068
- ClinGen CA341412
- ClinVar RCV000017741
- ClinVar RCV000255372
- Pathogenic
- Connective tissue disorder; FGFR3-related chondrodysplasia; Carcinoma of colon
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.69
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Thanatophoric dysplasia type 1)
- EBI: Pathogenic (in hypochondroplasia)
- UniProt: Pathogenic (in hypochondroplasia)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic… (PMID 10361991)
- Cited in: A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia. (PMID 10395236)