C50R (p.Cys50Arg) variant of HMGCR (P04035)
C50R (p.Cys50Arg) in HMGCR (P04035) 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.
C50R (p.Cys50Arg) variant details
- p.Cys50Arg
- ESP rs369987181
- ExAC rs369987181
- TOPMed rs369987181
- gnomAD rs369987181
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available