A301P (p.Ala301Pro) variant of ACAT1 (P24752)
A301P (p.Ala301Pro) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. 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.
A301P (p.Ala301Pro) variant details
- p.Ala301Pro
- rs1420321267
- ClinGen CA382508093
- ClinVar RCV000844819
- UniProt VAR 007503
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.93
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic (in 3KTD)
- UniProt: Pathogenic (in 3KTD)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in… (PMID 7728148)
- Cited in: Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete… (PMID 1346617)