G87D (p.Gly87Asp) variant of HMGCS2 (P54868)
G87D (p.Gly87Asp) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G87D (p.Gly87Asp) variant details
- p.Gly87Asp
- ExAC rs768463219
- TOPMed rs768463219
- gnomAD rs768463219
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.94
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available