G11V (p.Gly11Val) variant of ACAT1 (P24752)
G11V (p.Gly11Val) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- gnomAD 11-108121638-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.21
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available