L4P (p.Leu4Pro) variant of ACAT1 (P24752)
L4P (p.Leu4Pro) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- TOPMed rs1167146974
- gnomAD rs1167146974
- Uncertain significance
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.23
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Deficiency of acetyl-CoA acetyltransferase)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available