S249F (p.Ser249Phe) variant of FGFR3 (P22607)
S249F (p.Ser249Phe) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of FGFR3-related chondrodysplasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
S249F (p.Ser249Phe) variant details
- p.Ser249Phe
- rs121913483
- ClinGen CA2809971
- cosmic curated COSV10502
- ClinVar RCV002236423
- Conflicting interpretations
- FGFR3-related chondrodysplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.82
- AlphaMissense 0.98
- MetaLR 0.69
- MetaSVM 0.49
- CADD 23.90
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (FGFR3-related chondrodysplasia; not provided)
- EBI: Pathogenic (in KERSEB, BLC, cervical cancer and TD1)
- UniProt: Pathogenic (in KERSEB, BLC, cervical cancer and TD1)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available