K618N (p.Lys618Asn) variant of FGFR1 (P11362)
K618N (p.Lys618Asn) 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 0.67 / 1. The record also includes published literature and structural context.
K618N (p.Lys618Asn) variant details
- p.Lys618Asn
- rs2150581560
- ClinGen CA370731515
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10024
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- AlphaMissense 0.95
- MetaLR 0.67
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.35
- 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)