I16T (p.Ile16Thr) variant of FGFR3 (P22607)
I16T (p.Ile16Thr) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I16T (p.Ile16Thr) variant details
- p.Ile16Thr
- gnomAD 4-1793981-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.14
- MetaLR 0.21
- MetaSVM -0.91
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available