C21* (p.Cys21Ter) variant of MMAB (Q96EY8)
C21* (p.Cys21Ter) in MMAB (Q96EY8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
C21* (p.Cys21Ter) variant details
- p.Cys21Ter
- rs376611965
- ClinGen CA386641394
- ClinVar RCV003470143
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)