S22* (p.Ser22Ter) variant of ACADM (P11310)
S22* (p.Ser22Ter) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
S22* (p.Ser22Ter) variant details
- p.Ser22Ter
- rs1325609596
- ClinGen CA340807116
- ClinVar RCV002875893
- TOPMed rs1325609596
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.889
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)