A9V (p.Ala9Val) variant of FGFR3 (P22607)
A9V (p.Ala9Val) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD rs1198522381
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.09
- MetaLR 0.18
- MetaSVM -0.97
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available