L74M (p.Leu74Met) variant of HMGCR (P04035)
L74M (p.Leu74Met) 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.
L74M (p.Leu74Met) variant details
- p.Leu74Met
- 1000Genomes rs1760113958
- TOPMed rs1760113958
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.63
- CADD 24.40
- PolyPhen-2 0.84
- SIFT 0.02
- Population evidence available
- Structural context available