R21S (p.Arg21Ser) variant of ACAT1 (P24752)
R21S (p.Arg21Ser) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- gnomAD 11-108121669-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.27
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available