G11D (p.Gly11Asp) variant of ACAT1 (P24752)
G11D (p.Gly11Asp) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- gnomAD 11-108121638-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.31
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available