L140R (p.Leu140Arg) variant of ACAT1 (P24752)
L140R (p.Leu140Arg) 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 0.94 / 1. The record also includes structural context.
L140R (p.Leu140Arg) variant details
- p.Leu140Arg
- rs2077446835
- ClinGen CA382506867
- ClinVar RCV003474425
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available