A608D (p.Ala608Asp) variant of FGFR1 (P11362)
A608D (p.Ala608Asp) 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 0.93 / 1. The record also includes published literature and structural context.
A608D (p.Ala608Asp) variant details
- p.Ala608Asp
- rs1816366242
- ClinGen CA370731582
- cosmic curated COSV58334
- ClinVar RCV001251087
- Pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- 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)