A380T (p.Ala380Thr) variant of ACAT1 (P24752)
A380T (p.Ala380Thr) 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 0.88 / 1. The record also includes published literature and structural context.
A380T (p.Ala380Thr) variant details
- p.Ala380Thr
- rs120074140
- ClinGen CA252461
- ClinVar RCV000002966
- UniProt VAR 007507
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.80
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic (in 3KTD)
- UniProt: Pathogenic (in 3KTD)
- Structural context available
- Cited in: Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. (PMID 1715688)
- Cited in: Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete… (PMID 1346617)