R7* (p.Arg7Ter) variant of ACADM (P11310)
R7* (p.Arg7Ter) in ACADM (P11310) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R7* (p.Arg7Ter) variant details
- p.Arg7Ter
- rs1455996178
- ClinGen CA340805685
- cosmic curated COSV10651
- ClinVar RCV002222985
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 3e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)