I239T (p.Ile239Thr) variant of FGFR1 (P11362)
I239T (p.Ile239Thr) 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 2 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
I239T (p.Ile239Thr) variant details
- p.Ile239Thr
- rs2150859323
- ClinGen CA370735261
- ClinVar RCV003234684
- UniProt VAR 069290
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 0.91
- MetaLR 0.45
- MetaSVM -0.04
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.40
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. (PMID 19820032)
- Cited in: Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic… (PMID 23643382)