R7P (p.Arg7Pro) variant of HMGCR (P04035)
R7P (p.Arg7Pro) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- ExAC rs751171582
- TOPMed rs751171582
- gnomAD rs751171582
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.51
- CADD 31.00
- PolyPhen-2 0.62
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available