G270D (p.Gly270Asp) variant of FGFR1 (P11362)
G270D (p.Gly270Asp) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-W. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
G270D (p.Gly270Asp) variant details
- p.Gly270Asp
- rs2150822504
- ClinGen CA370735059
- ClinVar RCV001817913
- ClinVar RCV004796668
- Likely pathogenic
- not provided; Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-W
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- AlphaMissense 0.88
- MetaLR 0.67
- MetaSVM 0.44
- PolyPhen-2 0.51
- SIFT 0.07
- EVE 0.77
- ClinVar: Likely pathogenic (not provided; Hypogonadotropic hypogonadism 2 with or without an)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in… (PMID 17154279)
- Cited in: Encephalocraniocutaneous Lipomatosis. (PMID 35099867)