I26T (p.Ile26Thr) variant of ACAT1 (P24752)
I26T (p.Ile26Thr) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I26T (p.Ile26Thr) variant details
- p.Ile26Thr
- gnomAD 11-108131911-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.23
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available