Q24P (p.Gln24Pro) variant of ACAT1 (P24752)
Q24P (p.Gln24Pro) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, 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 structural context.
Q24P (p.Gln24Pro) variant details
- p.Gln24Pro
- rs2077152202
- ClinGen CA382505608
- ClinVar RCV001278340
- Ensembl rs2077152202
- Uncertain significance
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.08
- MetaLR 0.50
- MetaSVM -0.15
- PolyPhen-2 0.32
- SIFT 0.19
- MutPred 0.51
- ClinVar: Uncertain significance (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available