G92S (p.Gly92Ser) variant of ACAT1 (P24752)
G92S (p.Gly92Ser) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
G92S (p.Gly92Ser) variant details
- p.Gly92Ser
- rs1591362402
- ClinGen CA382506538
- ClinVar RCV000799776
- Ensembl rs1591362402
- Pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.88
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available