G85C (p.Gly85Cys) variant of ACADM (P11310)
G85C (p.Gly85Cys) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G85C (p.Gly85Cys) variant details
- p.Gly85Cys
- rs398123075
- ClinGen CA340810000
- ClinVar RCV000593338
- ClinVar RCV000633657
- Conflicting interpretations
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.97
- AlphaMissense 0.65
- MetaLR 1.00
- MetaSVM 0.93
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)