L203F (p.Leu203Phe) variant of ACADM (P11310)
L203F (p.Leu203Phe) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L203F (p.Leu203Phe) variant details
- p.Leu203Phe
- rs751829413
- ClinGen CA10576236
- ClinVar RCV000211450
- gnomAD rs751829413
- Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.71
- CADD 21.60
- PolyPhen-2 0.60
- SIFT 0.02
- ClinVar: Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)