I16V (p.Ile16Val) variant of FGFR3 (P22607)
I16V (p.Ile16Val) 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.
I16V (p.Ile16Val) variant details
- p.Ile16Val
- gnomAD 4-1793980-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.21
- MetaLR 0.16
- MetaSVM -0.95
- CADD 2.41
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available