R21K (p.Arg21Lys) variant of ACAT1 (P24752)
R21K (p.Arg21Lys) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R21K (p.Arg21Lys) variant details
- p.Arg21Lys
- gnomAD 11-108121668-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.19
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available