I44T (p.Ile44Thr) variant of ACAT1 (P24752)
I44T (p.Ile44Thr) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
I44T (p.Ile44Thr) variant details
- p.Ile44Thr
- rs2135334430
- ClinGen CA382506224
- ClinVar RCV001647335
- Ensembl rs2135334430
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.97
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available