A224P (p.Ala224Pro) variant of ACAT1 (P24752)
A224P (p.Ala224Pro) 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 0.59 / 1. The record also includes population frequency data and structural context.
A224P (p.Ala224Pro) variant details
- p.Ala224Pro
- rs2134761406
- ClinGen CA382507573
- ClinVar RCV001904962
- Ensembl rs2134761406
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.76
- CADD 22.70
- PolyPhen-2 0.80
- SIFT 0.06
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available