W2* (p.Trp2Ter) variant of FGFR1 (P11362)
W2* (p.Trp2Ter) in FGFR1 (P11362) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
W2* (p.Trp2Ter) variant details
- p.Trp2Ter
- Ensembl rs1014244943
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available