M1K (p.Met1Lys) variant of ACAT1 (P24752)
M1K (p.Met1Lys) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs120074142
- ClinGen CA252463
- ClinVar RCV000002972
- Pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- MetaLR 0.63
- MetaSVM 0.41
- PolyPhen-2 0.08
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta… (PMID 4690360)
- Cited in: Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families. (PMID 8103405)