V17M (p.Val17Met) variant of FGFR3 (P22607)
V17M (p.Val17Met) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- gnomAD rs1387880288
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.07
- MetaLR 0.18
- MetaSVM -0.96
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available