S10I (p.Ser10Ile) variant of ACAT1 (P24752)
S10I (p.Ser10Ile) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S10I (p.Ser10Ile) variant details
- p.Ser10Ile
- gnomAD 11-108121635-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.25
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available