K197E (p.Lys197Glu) variant of ACADM (P11310)
K197E (p.Lys197Glu) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
K197E (p.Lys197Glu) variant details
- p.Lys197Glu
- rs1199770829
- ClinGen CA340815444
- ClinVar RCV001974213
- gnomAD rs1199770829
- Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.67
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)