A5S (p.Ala5Ser) variant of ACAT1 (P24752)
A5S (p.Ala5Ser) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 11-108121619-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.09
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available