D224H (p.Asp224His) variant of FGFR1 (P11362)
D224H (p.Asp224His) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism 2 with or without a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
D224H (p.Asp224His) variant details
- p.Asp224His
- rs2150863079
- ClinGen CA370735371
- ClinVar RCV003234679
- ClinVar RCV004783050
- Likely pathogenic
- Hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism 2 with or without a
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism 2 w)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive… (PMID 16764984)
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)