M1V (p.Met1Val) variant of ACAT1 (P24752)
M1V (p.Met1Val) 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 0.45 / 1. The record also includes population frequency data and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1305448140
- ClinGen CA382505477
- ClinVar RCV000844765
- Pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- MetaLR 0.54
- MetaSVM -0.36
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available