C4* (p.Cys4Ter) variant of MMAB (Q96EY8)
C4* (p.Cys4Ter) in MMAB (Q96EY8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
C4* (p.Cys4Ter) variant details
- p.Cys4Ter
- rs1481415459
- ClinGen CA386641620
- ClinVar RCV000665638
- ClinVar RCV001576371
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)