S249Y (p.Ser249Tyr) variant of FGFR3 (P22607)
S249Y (p.Ser249Tyr) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; FGFR3-related chondrodysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
S249Y (p.Ser249Tyr) variant details
- p.Ser249Tyr
- cosmic curated COSV10502
- ExAC rs121913483
- TOPMed rs121913483
- gnomAD rs121913483
- Conflicting interpretations
- not provided; FGFR3-related chondrodysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.85
- AlphaMissense 0.98
- MetaLR 0.69
- MetaSVM 0.49
- CADD 23.60
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; FGFR3-related chondrodysplasia)
- EBI: Pathogenic (in KERSEB, BLC, cervical cancer and TD1)
- UniProt: Pathogenic (in KERSEB, BLC, cervical cancer and TD1)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available