F103Y (p.Phe103Tyr) variant of ACADM (P11310)
F103Y (p.Phe103Tyr) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
F103Y (p.Phe103Tyr) variant details
- p.Phe103Tyr
- rs1331587978
- ClinGen CA340811899
- ClinVar RCV003464929
- ClinVar RCV004701072
- Conflicting interpretations
- not specified; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.72
- CADD 23.10
- ClinVar: Conflicting classifications of pathogenicity (not specified; Medium-chain acyl-coenzyme A dehydrogenase defici)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)