A333P (p.Ala333Pro) variant of ACAT1 (P24752)
A333P (p.Ala333Pro) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A333P (p.Ala333Pro) variant details
- p.Ala333Pro
- rs120074147
- ClinGen CA252471
- ClinVar RCV000002979
- UniProt VAR 007505
- Pathogenic/Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.72
- CADD 24.70
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic (in 3KTD)
- UniProt: Pathogenic (in 3KTD)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial… (PMID 9744475)
- Cited in: Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete… (PMID 1346617)