E25D (p.Glu25Asp) variant of ACAT1 (P24752)
E25D (p.Glu25Asp) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E25D (p.Glu25Asp) variant details
- p.Glu25Asp
- TOPMed rs1167042233
- gnomAD rs1167042233
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.23
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available