W18* (p.Trp18Ter) variant of SMAD2 (SMAD family member 2)
W18* (p.Trp18Ter) in SMAD2 (SMAD family member 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
W18* (p.Trp18Ter) variant details
- p.Trp18Ter
- rs1555658568
- ClinGen CA402503551
- ClinVar RCV000578545
- Ensembl rs1555658568
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available