V29A (p.Val29Ala) variant of ACAT1 (P24752)
V29A (p.Val29Ala) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- gnomAD 11-108131920-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.15
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available