A13T (p.Ala13Thr) variant of FGFR3 (P22607)
A13T (p.Ala13Thr) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- gnomAD 4-1793971-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.09
- MetaLR 0.22
- MetaSVM -0.91
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available