T695I (p.Thr695Ile) variant of FGFR1 (P11362)
T695I (p.Thr695Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
T695I (p.Thr695Ile) variant details
- p.Thr695Ile
- rs515726225
- ClinGen CA269809
- ClinVar RCV000119060
- Ensembl rs515726225
- Pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.80
- MetaLR 0.81
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.38
- ClinVar: Pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)