T297K (p.Thr297Lys) variant of ACAT1 (P24752)
T297K (p.Thr297Lys) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
T297K (p.Thr297Lys) variant details
- p.Thr297Lys
- rs886041122
- ClinGen CA382508072
- ClinVar RCV000844817
- TOPMed rs886041122
- Pathogenic/Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.65
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic (in 3KTD)
- UniProt: Pathogenic (in 3KTD)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available