G152A (p.Gly152Ala) variant of ACAT1 (P24752)
G152A (p.Gly152Ala) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G152A (p.Gly152Ala) variant details
- p.Gly152Ala
- rs762991875
- ClinGen CA275331
- ClinVar RCV000179236
- ClinVar RCV000779680
- Pathogenic/Likely pathogenic
- not provided; Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.98
- CADD 27.50
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic (in 3KTD)
- UniProt: Pathogenic (in 3KTD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial… (PMID 7907600)
- Cited in: Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete… (PMID 1346617)