R3G (p.Arg3Gly) variant of HMGCS2 (P54868)
R3G (p.Arg3Gly) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- ExAC rs750380692
- TOPMed rs750380692
- gnomAD rs750380692
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.51
- CADD 23.30
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available