Q24* (p.Gln24Ter) variant of ACAT1 (P24752)
Q24* (p.Gln24Ter) in ACAT1 (P24752) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- rs2496516251
- ClinGen CA382505606
- ClinVar RCV003460285
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 44.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available