A9T (p.Ala9Thr) variant of FGFR3 (P22607)
A9T (p.Ala9Thr) 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 and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- gnomAD rs1479502935
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.09
- MetaLR 0.20
- MetaSVM -0.94
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 4e-05)
- Structural context available