C116G (p.Cys116Gly) variant of ACADM (P11310)
C116G (p.Cys116Gly) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C116G (p.Cys116Gly) variant details
- p.Cys116Gly
- rs875989863
- ClinGen CA10576225
- ClinVar RCV000211478
- ClinVar RCV000758716
- Conflicting interpretations
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Variant of uncertain significance (in ACADMD)
- UniProt: Uncertain significance (in ACADMD)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)