Q29E (p.Gln29Glu) variant of FGFR3 (P22607)
Q29E (p.Gln29Glu) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q29E (p.Gln29Glu) variant details
- p.Gln29Glu
- gnomAD 4-1794019-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.06
- MetaLR 0.23
- MetaSVM -0.91
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available