K124R (p.Lys124Arg) variant of ACAT1 (P24752)
K124R (p.Lys124Arg) 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 0.80 / 1. The record also includes population frequency data and structural context.
K124R (p.Lys124Arg) variant details
- p.Lys124Arg
- rs1037467160
- ClinGen CA382506754
- ClinVar RCV000844782
- TOPMed rs1037467160
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.90
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available