I16F (p.Ile16Phe) variant of FGFR3 (P22607)
I16F (p.Ile16Phe) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I16F (p.Ile16Phe) variant details
- p.Ile16Phe
- TOPMed rs1720154646
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.24
- MetaLR 0.18
- MetaSVM -0.99
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4e-06)
- Structural context available