R3C (p.Arg3Cys) variant of HMGCS2 (P54868)
R3C (p.Arg3Cys) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- ExAC rs750380692
- TOPMed rs750380692
- gnomAD rs750380692
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.53
- CADD 25.60
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available