P35L (p.Pro35Leu) variant of FGFR2 (P21802)
P35L (p.Pro35Leu) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of FGFR2-related craniosynostosis; Crouzon syndrome; Levy-Hollister syndrome. The record also includes structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- cosmic curated COSV10648
- Ensembl rs2135482046
- Uncertain significance
- FGFR2-related craniosynostosis; Crouzon syndrome; Levy-Hollister syndrome
- Missense
- ClinVar: Uncertain significance (FGFR2-related craniosynostosis; Crouzon syndrome; Levy-Hollister)
- UniProt: Uncertain significance
- Structural context available