A9E (p.Ala9Glu) variant of FGFR3 (P22607)
A9E (p.Ala9Glu) 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 and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- gnomAD rs1198522381
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.14
- MetaLR 0.23
- MetaSVM -0.85
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 6.1e-06)
- Structural context available