Q24K (p.Gln24Lys) variant of ACAT1 (P24752)
Q24K (p.Gln24Lys) 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.
Q24K (p.Gln24Lys) variant details
- p.Gln24Lys
- gnomAD 11-108121676-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.19
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available