Y28* (p.Tyr28Ter) variant of ACAT1 (P24752)
Y28* (p.Tyr28Ter) in ACAT1 (P24752) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Y28* (p.Tyr28Ter) variant details
- p.Tyr28Ter
- gnomAD 11-108131918-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 25.90
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available