I26M (p.Ile26Met) variant of ACAT1 (P24752)
I26M (p.Ile26Met) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I26M (p.Ile26Met) variant details
- p.Ile26Met
- gnomAD 11-108131912-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.21
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available