A225E (p.Ala225Glu) variant of ACAT1 (P24752)
A225E (p.Ala225Glu) 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 structural context.
A225E (p.Ala225Glu) variant details
- p.Ala225Glu
- rs1385465985
- ClinGen CA382507580
- ClinVar RCV000844801
- Ensembl rs1385465985
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 0.60
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available