A6S (p.Ala6Ser) variant of ACAT1 (P24752)
A6S (p.Ala6Ser) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 11-108121622-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.22
- CADD 14.60
- PolyPhen-2 0.02
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available