L84F (p.Leu84Phe) variant of ACADM (P11310)
L84F (p.Leu84Phe) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L84F (p.Leu84Phe) variant details
- p.Leu84Phe
- rs762114560
- ClinGen CA913006
- NCI-TCGA Cosmic COSV6372
- cosmic curated COSV63720
- Pathogenic/Likely pathogenic
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.92
- CADD 25.60
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)