A218G (p.Ala218Gly) variant of ACADM (P11310)
A218G (p.Ala218Gly) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A218G (p.Ala218Gly) variant details
- p.Ala218Gly
- rs764268346
- ClinGen CA913165
- ClinVar RCV001901697
- ClinVar RCV004720971
- Pathogenic/Likely pathogenic
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.65
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Pathogenic/Likely pathogenic (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)