E23K (p.Glu23Lys) variant of FGFR3 (P22607)
E23K (p.Glu23Lys) in FGFR3 (P22607) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- Ensembl rs1577253714
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.09
- MetaLR 0.25
- MetaSVM -0.81
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available