N158S (p.Asn158Ser) variant of ACAT1 (P24752)
N158S (p.Asn158Ser) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Deficiency of acetyl-CoA acetyltransferas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N158S (p.Asn158Ser) variant details
- p.Asn158Ser
- rs199524907
- ClinGen CA275332
- ClinVar RCV000179237
- ClinVar RCV000723373
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Deficiency of acetyl-CoA acetyltransferas
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.52
- CADD 22.40
- PolyPhen-2 0.23
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Deficiency of acetyl-CoA)
- 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: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)