E23G (p.Glu23Gly) variant of FGFR3 (P22607)
E23G (p.Glu23Gly) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar 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 0.19 / 1. The record also includes population frequency data and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- ExAC rs768338767
- TOPMed rs768338767
- gnomAD rs768338767
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.09
- MetaLR 0.26
- MetaSVM -0.80
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available