A16G (p.Ala16Gly) variant of FGFR1 (P11362)
A16G (p.Ala16Gly) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or without anosmia. 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.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- ExAC rs200596591
- gnomAD rs200596591
- Uncertain significance
- FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.44
- CADD 24.70
- PolyPhen-2 0.45
- SIFT 0.06
- ClinVar: Uncertain significance (FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available