E88A (p.Glu88Ala) variant of ACAT1 (P24752)
E88A (p.Glu88Ala) 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 0.79 / 1. The record also includes population frequency data and structural context.
E88A (p.Glu88Ala) variant details
- p.Glu88Ala
- rs1565288701
- ClinGen CA382506513
- ClinVar RCV001647336
- Ensembl rs1565288701
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.89
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available