I639T (p.Ile639Thr) variant of FGFR1 (P11362)
I639T (p.Ile639Thr) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypogonadotropic hypogonadism 2 with or without anosmia; Hypogonadotropic hypogo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
I639T (p.Ile639Thr) variant details
- p.Ile639Thr
- rs727505370
- ClinGen CA185884
- ClinVar RCV000156955
- ClinVar RCV000156956
- Pathogenic/Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia; Hypogonadotropic hypogo
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic/Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia; Hypogon)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)