A7T (p.Ala7Thr) variant of FGFR3 (P22607)
A7T (p.Ala7Thr) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- Ensembl rs1577253582
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.16
- MetaLR 0.24
- MetaSVM -0.89
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 2.2e-05)
- Structural context available