P550H (p.Pro550His) variant of FGFR3 (P22607)
P550H (p.Pro550His) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of FGFR3-related chondrodysplasia. The record also includes structural context.
P550H (p.Pro550His) variant details
- p.Pro550His
- Ensembl rs1721822893
- Likely pathogenic
- FGFR3-related chondrodysplasia
- Missense
- ClinVar: Likely pathogenic (FGFR3-related chondrodysplasia)
- UniProt: Likely pathogenic
- Structural context available