R13H (p.Arg13His) variant of ACAT1 (P24752)
R13H (p.Arg13His) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- ExAC rs754453264
- gnomAD rs754453264
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.28
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available