L35* (p.Leu35Ter) variant of ACADM (P11310)
L35* (p.Leu35Ter) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L35* (p.Leu35Ter) variant details
- p.Leu35Ter
- rs1647090485
- ClinGen CA340807430
- ClinVar RCV001238168
- Ensembl rs1647090485
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 24.80
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)