A281T (p.Ala281Thr) variant of ACAT1 (P24752)
A281T (p.Ala281Thr) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar 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 0.74 / 1. The record also includes population frequency data and structural context.
A281T (p.Ala281Thr) variant details
- p.Ala281Thr
- 1000Genomes rs200640435
- ExAC rs200640435
- gnomAD rs200640435
- Pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.70
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available