N375S (p.Asn375Ser) variant of ACAT1 (P24752)
N375S (p.Asn375Ser) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase; ACAT1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
N375S (p.Asn375Ser) variant details
- p.Asn375Ser
- rs373771053
- ClinGen CA6263368
- ClinVar RCV000844837
- ClinVar RCV003396461
- Pathogenic/Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase; ACAT1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.89
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase; ACAT1-related disord)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available