T264M (p.Thr264Met) variant of FGFR3 (P22607)
T264M (p.Thr264Met) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypochondroplasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
T264M (p.Thr264Met) variant details
- p.Thr264Met
- rs587778773
- ClinGen CA345147
- ClinVar RCV002237235
- gnomAD rs587778773
- Pathogenic/Likely pathogenic
- Hypochondroplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.90
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hypochondroplasia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available