V427E (p.Val427Glu) variant of FGFR1 (P11362)
V427E (p.Val427Glu) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hypogonadotropic hypogonadism 2 with or without anosmia. The record also includes structural context.
V427E (p.Val427Glu) variant details
- p.Val427Glu
- cosmic curated COSV10736
- Ensembl rs2150704181
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- UniProt: Likely pathogenic
- Structural context available