G89A (p.Gly89Ala) variant of HMGCS2 (P54868)
G89A (p.Gly89Ala) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G89A (p.Gly89Ala) variant details
- p.Gly89Ala
- 1000Genomes rs114033510
- ExAC rs114033510
- gnomAD rs114033510
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.94
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available