R69* (p.Arg69Ter) variant of HMGCR (P04035)
R69* (p.Arg69Ter) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R69* (p.Arg69Ter) variant details
- p.Arg69Ter
- TOPMed rs1580655061
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available