Y33* (p.Tyr33Ter) variant of ACAT1 (P24752)
Y33* (p.Tyr33Ter) 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 0.30 / 1. The record also includes population frequency data and structural context.
Y33* (p.Tyr33Ter) variant details
- p.Tyr33Ter
- rs1469248513
- ClinGen CA382506146
- ClinVar RCV000844770
- TOPMed rs1469248513
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 31.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available