C50G (p.Cys50Gly) variant of HMGCR (P04035)
C50G (p.Cys50Gly) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
C50G (p.Cys50Gly) variant details
- p.Cys50Gly
- ESP rs369987181
- ExAC rs369987181
- TOPMed rs369987181
- gnomAD rs369987181
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.93
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available