Y397N (p.Tyr397Asn) variant of ACADM (P11310)
Y397N (p.Tyr397Asn) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y397N (p.Tyr397Asn) variant details
- p.Tyr397Asn
- rs759158371
- ClinGen CA913287
- ClinVar RCV000211439
- ExAC rs759158371
- Pathogenic/Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.84
- CADD 24.60
- PolyPhen-2 0.65
- SIFT 0.16
- ClinVar: Pathogenic/Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)