K47* (p.Lys47Ter) variant of SETD2 (Q9BYW2)
K47* (p.Lys47Ter) in SETD2 (Q9BYW2) is a protein-truncating change. The record also includes experimental measurements and structural context.
K47* (p.Lys47Ter) variant details
- p.Lys47Ter
- Ensembl rs2106729291
- Stop Gained
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.0235