R21G (p.Arg21Gly) variant of ACAT1 (P24752)
R21G (p.Arg21Gly) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R21G (p.Arg21Gly) variant details
- p.Arg21Gly
- gnomAD 11-108121667-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.30
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available