A15T (p.Ala15Thr) variant of FGFR3 (P22607)
A15T (p.Ala15Thr) 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 0.23 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- rs573850631
- ClinGen CA2809677
- ClinVar RCV001773929
- 1000Genomes rs573850631
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.14
- MetaLR 0.21
- MetaSVM -0.92
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available