Y28C (p.Tyr28Cys) variant of ACAT1 (P24752)
Y28C (p.Tyr28Cys) in ACAT1 (P24752) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Y28C (p.Tyr28Cys) variant details
- p.Tyr28Cys
- rs749873354
- gnomAD 11-108131914-GAT-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 22.30
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available