R21M (p.Arg21Met) variant of ACAT1 (P24752)
R21M (p.Arg21Met) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R21M (p.Arg21Met) variant details
- p.Arg21Met
- gnomAD 11-108121668-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.35
- CADD 21.30
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available