L18P (p.Leu18Pro) variant of ACAT1 (P24752)
L18P (p.Leu18Pro) in ACAT1 (P24752) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- rs1476273214
- gnomAD 11-108121653-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 23.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available