N540S (p.Asn540Ser) variant of FGFR3 (P22607)
N540S (p.Asn540Ser) 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; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
N540S (p.Asn540Ser) variant details
- p.Asn540Ser
- rs77722678
- ClinGen CA341420
- ClinVar RCV000017758
- ClinVar RCV000623459
- Pathogenic/Likely pathogenic
- FGFR3-related chondrodysplasia; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.78
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (FGFR3-related chondrodysplasia; Inborn genetic diseases; not pro)
- EBI: Pathogenic (in hypochondroplasia)
- UniProt: Pathogenic (in hypochondroplasia)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the… (PMID 10777366)
- Cited in: Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth… (PMID 12707965)