L18C (p.Leu18Cys) variant of ACAT1 (P24752)
L18C (p.Leu18Cys) in ACAT1 (P24752) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L18C (p.Leu18Cys) variant details
- p.Leu18Cys
- gnomAD 11-108121653-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 19.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available