E21* (p.Glu21Ter) variant of MMUT (P22033)
E21* (p.Glu21Ter) in MMUT (P22033) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
E21* (p.Glu21Ter) variant details
- p.Glu21Ter
- rs1767780776
- ClinGen CA364405880
- NCI-TCGA Cosmic COSV9922
- ClinVar RCV001198995
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available