G610D (p.Gly610Asp) variant of FGFR1 (P11362)
G610D (p.Gly610Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G610D (p.Gly610Asp) variant details
- p.Gly610Asp
- rs2150582700
- ClinGen CA370731573
- NCI-TCGA Cosmic COSV5833
- cosmic curated COSV58333
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia; not pro)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)