A5T (p.Ala5Thr) variant of FGFR3 (P22607)
A5T (p.Ala5Thr) 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.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD 4-1793947-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.17
- MetaLR 0.29
- MetaSVM -0.76
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available