F55N (p.Phe55Asn) variant of ACADM (P11310)
F55N (p.Phe55Asn) in ACADM (P11310) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
F55N (p.Phe55Asn) variant details
- p.Phe55Asn
- rs2525572068
- ClinGen CA2580063236
- ClinVar RCV003121877
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)