E23Q (p.Glu23Gln) variant of FGFR3 (P22607)
E23Q (p.Glu23Gln) 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 0.20 / 1. The record also includes population frequency data and structural context.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- rs1577253714
- ClinGen CA355985814
- ClinVar RCV002236401
- Ensembl rs1577253714
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.07
- MetaLR 0.24
- MetaSVM -0.86
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-06)
- Structural context available