R15S (p.Arg15Ser) variant of ACAT1 (P24752)
R15S (p.Arg15Ser) 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.
R15S (p.Arg15Ser) variant details
- p.Arg15Ser
- gnomAD 11-108121649-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.29
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available