A132G (p.Ala132Gly) variant of ACAT1 (P24752)
A132G (p.Ala132Gly) 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 0.52 / 1. The record also includes structural context.
A132G (p.Ala132Gly) variant details
- p.Ala132Gly
- rs1591363786
- ClinGen CA382506809
- ClinVar RCV000844785
- Ensembl rs1591363786
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 0.29
- MetaLR 0.56
- MetaSVM 0.19
- PolyPhen-2 0.06
- SIFT 0.00
- EVE 0.53
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available