C8* (p.Cys8Ter) variant of ACADM (P11310)
C8* (p.Cys8Ter) in ACADM (P11310) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
C8* (p.Cys8Ter) variant details
- p.Cys8Ter
- rs2100332723
- ClinGen CA340805696
- ClinVar RCV001914071
- Ensembl rs2100332723
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)