R13P (p.Arg13Pro) variant of ACAT1 (P24752)
R13P (p.Arg13Pro) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R13P (p.Arg13Pro) variant details
- p.Arg13Pro
- gnomAD 11-108121644-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.41
- AlphaMissense 0.95
- MetaLR 0.41
- MetaSVM -0.23
- CADD 19.30
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available