G301D (p.Gly301Asp) variant of FGFR1 (P11362)
G301D (p.Gly301Asp) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar 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 0.57 / 1. The record also includes population frequency data and structural context.
G301D (p.Gly301Asp) variant details
- p.Gly301Asp
- cosmic curated COSV10814
- ExAC rs762320540
- gnomAD rs762320540
- Likely pathogenic
- not provided; Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-W
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.42
- CADD 24.50
- PolyPhen-2 0.95
- SIFT 0.06
- ClinVar: Likely pathogenic (not provided; Hypogonadotropic hypogonadism 2 with or without an)
- UniProt: Likely pathogenic
- Most common in the HGDP:TU population (allele frequency 0.05)
- Structural context available