G94D (p.Gly94Asp) variant of HMGCS2 (P54868)
G94D (p.Gly94Asp) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G94D (p.Gly94Asp) variant details
- p.Gly94Asp
- Ensembl rs2101273865
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.92
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available