E28K (p.Glu28Lys) variant of FGFR3 (P22607)
E28K (p.Glu28Lys) 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 0.25 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- rs768021369
- ClinGen CA2809685
- ClinVar RCV003457414
- ExAC rs768021369
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.09
- MetaLR 0.27
- MetaSVM -0.83
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available