S14G (p.Ser14Gly) variant of ACAT1 (P24752)
S14G (p.Ser14Gly) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S14G (p.Ser14Gly) variant details
- p.Ser14Gly
- gnomAD 11-108121646-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.19
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.01
- CADD 15.00
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available