S249C (p.Ser249Cys) variant of FGFR3 (P22607)
S249C (p.Ser249Cys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Connective tissue disorder; FGFR3-related disorder; FGFR3-related chondrodysplas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
S249C (p.Ser249Cys) variant details
- p.Ser249Cys
- rs121913483
- ClinGen CA126380
- cosmic curated COSV53390
- ClinVar RCV000017742
- Pathogenic
- Connective tissue disorder; FGFR3-related disorder; FGFR3-related chondrodysplas
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- AlphaMissense 0.98
- MetaLR 0.69
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.27
- ClinVar: Pathogenic (Connective tissue disorder; FGFR3-related disorder; FGFR3-relate)
- EBI: Pathogenic (in KERSEB, BLC, cervical cancer and TD1)
- UniProt: Pathogenic (in KERSEB, BLC, cervical cancer and TD1)
- Structural context available
- Cited in: Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. (PMID 10360402)
- Cited in: Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. (PMID 10471491)