p.Ala5delinsGlyThrAlaValLeuPro variant of ACAT1 (P24752)
p.Ala5delinsGlyThrAlaValLeuPro in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala5delinsGlyThrAlaValLeuPro variant details
- rs2077149832
- gnomAD 11-108121619-G-GG
- Protein Altering
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 23.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available