G183R (p.Gly183Arg) variant of ACAT1 (P24752)
G183R (p.Gly183Arg) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G183R (p.Gly183Arg) variant details
- p.Gly183Arg
- rs120074141
- ClinGen CA252462
- ClinVar RCV000002967
- UniProt VAR 007501
- Pathogenic/Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.94
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic (in 3KTD)
- UniProt: Pathogenic (in 3KTD)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete… (PMID 1346617)
- Cited in: Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. (PMID 7173255)