P4T (p.Pro4Thr) variant of FGFR3 (P22607)
P4T (p.Pro4Thr) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- gnomAD 4-1793944-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.21
- MetaLR 0.31
- MetaSVM -0.77
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available