T27K (p.Thr27Lys) variant of FGFR3 (P22607)
T27K (p.Thr27Lys) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T27K (p.Thr27Lys) variant details
- p.Thr27Lys
- gnomAD 4-1794014-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.14
- MetaLR 0.25
- MetaSVM -0.82
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available