V34A (p.Val34Ala) variant of ACAT1 (P24752)
V34A (p.Val34Ala) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V34A (p.Val34Ala) variant details
- p.Val34Ala
- gnomAD 11-108131935-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.18
- CADD 0.80
- PolyPhen-2 0.00
- SIFT 0.83
- Population evidence available
- Structural context available
- Literature evidence available