R15H (p.Arg15His) variant of ACAT1 (P24752)
R15H (p.Arg15His) 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.
R15H (p.Arg15His) variant details
- p.Arg15His
- gnomAD 11-108121650-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.30
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available