L4L (p.Leu4Leu) variant of ACAT1 (P24752)
L4L (p.Leu4Leu) in ACAT1 (P24752) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- rs774524997
- gnomAD 11-108121616-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.23
- AlphaMissense 0.08
- MetaLR 0.16
- MetaSVM -0.87
- CADD 13.40
- PolyPhen-2 0.15
- SIFT 0.11
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available