I387T (p.Ile387Thr) variant of ACAT1 (P24752)
I387T (p.Ile387Thr) 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 0.82 / 1. The record also includes population frequency data and structural context.
I387T (p.Ile387Thr) variant details
- p.Ile387Thr
- rs748303093
- ClinGen CA6263371
- ClinVar RCV000493456
- ClinVar RCV000662283
- Pathogenic/Likely pathogenic
- not provided; Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.95
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available