R29* (p.Arg29Ter) variant of ACADM (P11310)
R29* (p.Arg29Ter) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R29* (p.Arg29Ter) variant details
- p.Arg29Ter
- rs745793409
- ClinGen CA912938
- NCI-TCGA Cosmic COSV6372
- cosmic curated COSV63721
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)