V29E (p.Val29Glu) variant of ACAT1 (P24752)
V29E (p.Val29Glu) in ACAT1 (P24752) is a missense 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.
V29E (p.Val29Glu) variant details
- p.Val29Glu
- gnomAD 11-108131920-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.29
- CADD 14.30
- PolyPhen-2 0.02
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available