V381E (p.Val381Glu) variant of FGFR3 (P22607)
V381E (p.Val381Glu) 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 structural context.
V381E (p.Val381Glu) variant details
- p.Val381Glu
- gnomAD rs587778776
- Likely pathogenic
- Hypochondroplasia
- Missense
- ClinVar: Likely pathogenic (Hypochondroplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available