L342S (p.Leu342Ser) variant of FGFR1 (P11362)
L342S (p.Leu342Ser) 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 0.45 / 1. The record also includes published literature and structural context.
L342S (p.Leu342Ser) variant details
- p.Leu342Ser
- rs121909638
- ClinGen CA130218
- ClinVar RCV000030933
- ClinVar RCV003234536
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.98
- MetaLR 0.25
- MetaSVM -0.37
- PolyPhen-2 0.85
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. (PMID 17235395)
- Cited in: Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic… (PMID 23643382)