G388A (p.Gly388Ala) variant of ACAT1 (P24752)
G388A (p.Gly388Ala) 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 population frequency data and structural context.
G388A (p.Gly388Ala) variant details
- p.Gly388Ala
- rs773491386
- ClinVar RCV004566519
- ExAC rs773491386
- gnomAD rs773491386
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- REVEL 0.96
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- CADD 35.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available