L8Q (p.Leu8Gln) variant of ACAT1 (P24752)
L8Q (p.Leu8Gln) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L8Q (p.Leu8Gln) variant details
- p.Leu8Gln
- gnomAD 11-108121629-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.44
- AlphaMissense 0.14
- MetaLR 0.09
- MetaSVM -0.96
- CADD 23.40
- PolyPhen-2 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available