Y373C (p.Tyr373Cys) variant of FGFR3 (P22607)
Y373C (p.Tyr373Cys) 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; Thanatophoric dysplasia type 1; Achondroplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
Y373C (p.Tyr373Cys) variant details
- p.Tyr373Cys
- rs121913485
- ClinGen CA341413
- cosmic curated COSV53390
- ClinVar RCV000017751
- Pathogenic
- FGFR3-related chondrodysplasia; Thanatophoric dysplasia type 1; Achondroplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- AlphaMissense 0.18
- MetaLR 0.78
- MetaSVM 0.73
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic (FGFR3-related chondrodysplasia; Thanatophoric dysplasia type 1;)
- EBI: Pathogenic (in KERSEB and TD1)
- UniProt: Pathogenic (in KERSEB and TD1)
- Structural context available
- Cited in: Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. (PMID 10360402)
- Cited in: Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. (PMID 15772091)