T27R (p.Thr27Arg) variant of FGFR3 (P22607)
T27R (p.Thr27Arg) in FGFR3 (P22607) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T27R (p.Thr27Arg) variant details
- p.Thr27Arg
- gnomAD 4-1794008-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 12.50
- Population evidence available
- Structural context available
- Literature evidence available