R27* (p.Arg27Ter) variant of ACAT1 (P24752)
R27* (p.Arg27Ter) in ACAT1 (P24752) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
R27* (p.Arg27Ter) variant details
- p.Arg27Ter
- rs1591360326
- ClinGen CA382506102
- ClinVar RCV000844767
- Ensembl rs1591360326
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available