A20T (p.Ala20Thr) variant of FGFR3 (P22607)
A20T (p.Ala20Thr) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- Ensembl rs2108752148
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.10
- MetaLR 0.22
- MetaSVM -0.93
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available