N194D (p.Asn194Asp) variant of ACADM (P11310)
N194D (p.Asn194Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
N194D (p.Asn194Asp) variant details
- p.Asn194Asp
- rs773677327
- ClinGen CA913137
- ClinVar RCV000211463
- ClinVar RCV000755768
- Pathogenic/Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.95
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency; not provi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)