E23V (p.Glu23Val) variant of FGFR3 (P22607)
E23V (p.Glu23Val) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E23V (p.Glu23Val) variant details
- p.Glu23Val
- gnomAD 4-1794002-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.13
- MetaLR 0.28
- MetaSVM -0.78
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available