S14I (p.Ser14Ile) variant of ACAT1 (P24752)
S14I (p.Ser14Ile) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S14I (p.Ser14Ile) variant details
- p.Ser14Ile
- gnomAD 11-108121647-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.24
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available