D186Y (p.Asp186Tyr) variant of ACAT1 (P24752)
D186Y (p.Asp186Tyr) 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 0.74 / 1. The record also includes structural context.
D186Y (p.Asp186Tyr) variant details
- p.Asp186Tyr
- rs1591367592
- ClinGen CA382507303
- ClinVar RCV000844793
- Ensembl rs1591367592
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.95
- MetaLR 0.66
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available