K124E (p.Lys124Glu) variant of ACAT1 (P24752)
K124E (p.Lys124Glu) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
K124E (p.Lys124Glu) variant details
- p.Lys124Glu
- rs1591363715
- ClinGen CA382506751
- ClinVar RCV000844781
- Ensembl rs1591363715
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.95
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available