E30N (p.Glu30Asn) variant of ACAT1 (P24752)
E30N (p.Glu30Asn) in ACAT1 (P24752) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E30N (p.Glu30Asn) variant details
- p.Glu30Asn
- gnomAD 11-108131920-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 22.90
- Population evidence available
- Structural context available
- Literature evidence available