E25K (p.Glu25Lys) variant of ACAT1 (P24752)
E25K (p.Glu25Lys) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- gnomAD 11-108131907-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.49
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available