E670K (p.Glu670Lys) variant of FGFR1 (P11362)
E670K (p.Glu670Lys) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR1-related disorder; Inborn genetic diseases; Hypogonadotropic hypogonadism 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
E670K (p.Glu670Lys) variant details
- p.Glu670Lys
- rs397515446
- ClinGen CA143804
- ClinVar RCV000043591
- ClinVar RCV003234545
- Pathogenic/Likely pathogenic
- FGFR1-related disorder; Inborn genetic diseases; Hypogonadotropic hypogonadism 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (FGFR1-related disorder; Inborn genetic diseases; Hypogonadotropi)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic… (PMID 23643382)
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)