E30E (p.Glu30Glu) variant of ACAT1 (P24752)
E30E (p.Glu30Glu) in ACAT1 (P24752) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E30E (p.Glu30Glu) variant details
- p.Glu30Glu
- gnomAD 11-108131924-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0969
- CADD 2.30
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available