T546K (p.Thr546Lys) variant of FGFR3 (P22607)
T546K (p.Thr546Lys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of FGFR3-related chondrodysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
T546K (p.Thr546Lys) variant details
- p.Thr546Lys
- rs587777857
- ClinGen CA170920
- ClinVar RCV000144699
- TOPMed rs587777857
- Likely pathogenic
- FGFR3-related chondrodysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- AlphaMissense 0.80
- MetaLR 0.73
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (FGFR3-related chondrodysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing… (PMID 24864036)