Q24Q (p.Gln24Gln) variant of ACAT1 (P24752)
Q24Q (p.Gln24Gln) in ACAT1 (P24752) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q24Q (p.Gln24Gln) variant details
- p.Gln24Gln
- gnomAD 11-108121678-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 24.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available