R7* (p.Arg7Ter) variant of HMGCR (P04035)
R7* (p.Arg7Ter) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R7* (p.Arg7Ter) variant details
- p.Arg7Ter
- cosmic curated COSV10515
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available