E28Q (p.Glu28Gln) variant of FGFR3 (P22607)
E28Q (p.Glu28Gln) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- gnomAD 4-1794016-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.12
- MetaLR 0.35
- MetaSVM -0.71
- CADD 22.40
- PolyPhen-2 0.16
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available