M389I (p.Met389Ile) variant of ACAT1 (P24752)
M389I (p.Met389Ile) 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 0.85 / 1. The record also includes population frequency data and structural context.
M389I (p.Met389Ile) variant details
- p.Met389Ile
- rs377295639
- ClinGen CA382508698
- ClinVar RCV001963701
- ESP rs377295639
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.91
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.12
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available