V29G (p.Val29Gly) variant of ACAT1 (P24752)
V29G (p.Val29Gly) in ACAT1 (P24752) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V29G (p.Val29Gly) variant details
- p.Val29Gly
- gnomAD 11-108131917-ATG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 15.20
- Population evidence available
- Structural context available
- Literature evidence available