A2S (p.Ala2Ser) variant of ACAT1 (P24752)
A2S (p.Ala2Ser) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 11-108121610-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.14
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available