D168A (p.Asp168Ala) variant of ACADM (P11310)
D168A (p.Asp168Ala) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
D168A (p.Asp168Ala) variant details
- p.Asp168Ala
- rs745844469
- ClinGen CA913127
- ClinVar RCV000211496
- ClinVar RCV000439614
- Conflicting interpretations
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.98
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.01
- CADD 28.10
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)