F55I (p.Phe55Ile) variant of ACAT1 (P24752)
F55I (p.Phe55Ile) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
F55I (p.Phe55Ile) variant details
- p.Phe55Ile
- rs1268424543
- ClinGen CA382506286
- ClinVar RCV003606633
- TOPMed rs1268424543
- Pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.80
- CADD 24.10
- PolyPhen-2 0.91
- SIFT 0.06
- ClinVar: Pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available