C126S (p.Cys126Ser) variant of ACAT1 (P24752)
C126S (p.Cys126Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
C126S (p.Cys126Ser) variant details
- p.Cys126Ser
- rs1278227329
- ClinGen CA382506766
- ClinVar RCV000844783
- ClinVar RCV003442119
- Pathogenic/Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.97
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available