R248C (p.Arg248Cys) variant of FGFR3 (P22607)
R248C (p.Arg248Cys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR3-related chondrodysplasia; Carcinoma of colon; Severe achondroplasia-develo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R248C (p.Arg248Cys) variant details
- p.Arg248Cys
- rs121913482
- ClinGen CA126378
- cosmic curated COSV53390
- ClinVar RCV000017731
- Pathogenic
- FGFR3-related chondrodysplasia; Carcinoma of colon; Severe achondroplasia-develo
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 0.98
- MetaLR 0.72
- MetaSVM 0.80
- PolyPhen-2 0.68
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (FGFR3-related chondrodysplasia; Carcinoma of colon; Severe achon)
- EBI: Pathogenic (in KERSEB, BLC, keratinocytic non-epidermolytic nevus and TD1)
- UniProt: Pathogenic (in KERSEB, BLC, keratinocytic non-epidermolytic nevus and TD1)
- Structural context available
- Cited in: Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene… (PMID 10073901)
- Cited in: Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. (PMID 10360402)