G379V (p.Gly379Val) variant of ACAT1 (P24752)
G379V (p.Gly379Val) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G379V (p.Gly379Val) variant details
- p.Gly379Val
- rs120074143
- ClinGen CA252465
- ClinVar RCV000002973
- UniProt VAR 007506
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.95
- CADD 29.80
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic (in 3KTD)
- UniProt: Pathogenic (in 3KTD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene. (PMID 1373235)
- Cited in: Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial… (PMID 7907600)