R13L (p.Arg13Leu) variant of ACAT1 (P24752)
R13L (p.Arg13Leu) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- gnomAD 11-108121644-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.33
- AlphaMissense 0.95
- MetaLR 0.41
- MetaSVM -0.23
- CADD 18.10
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available