L326W (p.Leu326Trp) variant of FGFR3 (P22607)
L326W (p.Leu326Trp) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypochondroplasia. The record also includes published literature and structural context.
L326W (p.Leu326Trp) variant details
- p.Leu326Trp
- rs2546817560
- ClinGen CA355978222
- ClinVar RCV003228715
- Likely pathogenic
- Hypochondroplasia
- Missense
- ClinVar: Likely pathogenic (Hypochondroplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hypochondroplasia. (PMID 20301650)