I347T (p.Ile347Thr) variant of ACAT1 (P24752)
I347T (p.Ile347Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
I347T (p.Ile347Thr) variant details
- p.Ile347Thr
- rs1338023969
- ClinGen CA382508404
- ClinVar RCV000844833
- gnomAD rs1338023969
- Pathogenic/Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.92
- CADD 26.30
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available