R7Q (p.Arg7Gln) variant of HMGCR (P04035)
R7Q (p.Arg7Gln) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- cosmic curated COSV99843
- ExAC rs751171582
- TOPMed rs751171582
- gnomAD rs751171582
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.16
- CADD 24.10
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available