G26E (p.Gly26Glu) variant of FGFR3 (P22607)
G26E (p.Gly26Glu) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G26E (p.Gly26Glu) variant details
- p.Gly26Glu
- rs1221876688
- ClinGen CA355985968
- ClinVar RCV002231795
- gnomAD rs1221876688
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.22
- MetaLR 0.32
- MetaSVM -0.72
- CADD 11.80
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available