W290C (p.Trp290Cys) variant of FGFR2 (P21802)
W290C (p.Trp290Cys) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gastric cancer; Jackson-Weiss syndrome; Saethre-Chotzen syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
W290C (p.Trp290Cys) variant details
- p.Trp290Cys
- rs121918499
- ClinGen CA280182
- NCI-TCGA Cosmic COSV6064
- cosmic curated COSV60643
- Pathogenic
- Gastric cancer; Jackson-Weiss syndrome; Saethre-Chotzen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Gastric cancer; Jackson-Weiss syndrome; Saethre-Chotzen syndrome)
- EBI: Pathogenic (in PS)
- UniProt: Pathogenic (in PS)
- Structural context available
- Cited in: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with… (PMID 11781872)
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)