R21del (p.Arg21del) variant of ACAT1 (P24752)
R21del (p.Arg21del) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R21del (p.Arg21del) variant details
- gnomAD 11-108121662-TCCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 17.40
- Population evidence available
- Structural context available
- Literature evidence available