A18T (p.Ala18Thr) variant of FGFR3 (P22607)
A18T (p.Ala18Thr) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- rs908992323
- ClinGen CA91266062
- ClinVar RCV003738754
- TOPMed rs908992323
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.21
- MetaLR 0.21
- MetaSVM -0.90
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available