F78L (p.Phe78Leu) variant of HMGCR (P04035)
F78L (p.Phe78Leu) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
F78L (p.Phe78Leu) variant details
- p.Phe78Leu
- TOPMed rs1760114290
- gnomAD rs1760114290
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.50
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available