N93S (p.Asn93Ser) variant of ACAT1 (P24752)
N93S (p.Asn93Ser) 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 0.60 / 1. The record also includes published literature and structural context.
N93S (p.Asn93Ser) variant details
- p.Asn93Ser
- rs120074145
- ClinGen CA252469
- ClinVar RCV000002977
- UniProt VAR 007498
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.14
- MetaLR 0.82
- MetaSVM 0.93
- PolyPhen-2 0.23
- SIFT 0.01
- EVE 0.38
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic (in 3KTD)
- UniProt: Pathogenic (in 3KTD)
- 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)