E30G (p.Glu30Gly) variant of ACAT1 (P24752)
E30G (p.Glu30Gly) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- TOPMed rs2077368534
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.19
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available