R15L (p.Arg15Leu) variant of ACAT1 (P24752)
R15L (p.Arg15Leu) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- gnomAD 11-108121650-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.28
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available