R31L (p.Arg31Leu) variant of ACAT1 (P24752)
R31L (p.Arg31Leu) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R31L (p.Arg31Leu) variant details
- p.Arg31Leu
- gnomAD 11-108131926-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.73
- CADD 23.50
- PolyPhen-2 0.36
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available