Q24R (p.Gln24Arg) variant of ACAT1 (P24752)
Q24R (p.Gln24Arg) 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.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- gnomAD 11-108121677-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.25
- AlphaMissense 0.12
- MetaLR 0.24
- MetaSVM -0.49
- CADD 23.70
- PolyPhen-2 0.93
- Population evidence available
- Structural context available
- Literature evidence available