G370C (p.Gly370Cys) variant of FGFR3 (P22607)
G370C (p.Gly370Cys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Germ cell tumor of testis; Severe achondroplasia-developmental delay-acanthosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
G370C (p.Gly370Cys) variant details
- p.Gly370Cys
- rs121913479
- Civic 2406
- ClinGen CA129946
- cosmic curated COSV53390
- Pathogenic
- Germ cell tumor of testis; Severe achondroplasia-developmental delay-acanthosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- AlphaMissense 0.27
- MetaLR 0.55
- MetaSVM 0.16
- PolyPhen-2 0.01
- SIFT 0.08
- EVE 0.20
- ClinVar: Pathogenic (Germ cell tumor of testis; Severe achondroplasia-developmental d)
- 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: Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. (PMID 10471491)
- Cited in: Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. (PMID 15772091)