N540T (p.Asn540Thr) variant of FGFR3 (P22607)
N540T (p.Asn540Thr) 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; not provided; Hypochondroplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
N540T (p.Asn540Thr) variant details
- p.Asn540Thr
- rs77722678
- ClinGen CA341415
- ClinVar RCV000017753
- ClinVar RCV001549822
- Pathogenic/Likely pathogenic
- FGFR3-related chondrodysplasia; not provided; Hypochondroplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.80
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (FGFR3-related chondrodysplasia; not provided; Hypochondroplasia)
- EBI: Pathogenic (in hypochondroplasia)
- UniProt: Pathogenic (in hypochondroplasia)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. (PMID 9452043)
- Cited in: Hypochondroplasia. (PMID 20301650)