H144P (p.His144Pro) variant of ACAT1 (P24752)
H144P (p.His144Pro) 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 0.71 / 1. The record also includes population frequency data and structural context.
H144P (p.His144Pro) variant details
- p.His144Pro
- rs1025180934
- ClinGen CA228400172
- ClinVar RCV000844787
- gnomAD rs1025180934
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.78
- CADD 24.20
- PolyPhen-2 0.48
- SIFT 0.17
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available