M1T (p.Met1Thr) variant of ACAT1 (P24752)
M1T (p.Met1Thr) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs120074142
- ClinGen CA382505480
- ClinVar RCV000844766
- Pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- MetaLR 0.63
- MetaSVM 0.41
- PolyPhen-2 0.08
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available