G490R (p.Gly490Arg) variant of FGFR1 (P11362)
G490R (p.Gly490Arg) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G490R (p.Gly490Arg) variant details
- p.Gly490Arg
- rs869025670
- ClinGen CA357149
- ClinVar RCV000208875
- UniProt VAR 070853
- Pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Pathogenic (in HRTFDS)
- UniProt: Pathogenic (in HRTFDS)
- Structural context available
- Cited in: FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. (PMID 23812909)
- Cited in: Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. (PMID 24888332)