A218D (p.Ala218Asp) variant of ACADM (P11310)
A218D (p.Ala218Asp) 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; not provided; Medium-chain acyl-coenzyme A dehydrogenase deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A218D (p.Ala218Asp) variant details
- p.Ala218Asp
- rs764268346
- ClinGen CA913164
- ClinVar RCV002606306
- ClinVar RCV003108148
- Conflicting interpretations
- not specified; not provided; Medium-chain acyl-coenzyme A dehydrogenase deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.86
- CADD 25.50
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Medium-chain acyl-coenzyme A dehydr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)