N158D (p.Asn158Asp) variant of ACAT1 (P24752)
N158D (p.Asn158Asp) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
N158D (p.Asn158Asp) variant details
- p.Asn158Asp
- rs148639841
- ClinGen CA220226
- ClinVar RCV000077931
- ClinVar RCV000179235
- Pathogenic/Likely pathogenic
- not provided; Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.82
- CADD 25.40
- PolyPhen-2 0.66
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic (in 3KTD)
- UniProt: Pathogenic (in 3KTD)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in… (PMID 7728148)
- Cited in: Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete… (PMID 1346617)