E23D (p.Glu23Asp) variant of FGFR3 (P22607)
E23D (p.Glu23Asp) in FGFR3 (P22607) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- ExAC rs776259575
- TOPMed rs776259575
- gnomAD rs776259575
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.15
- MetaLR 0.26
- MetaSVM -0.79
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.32
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available