G2E (p.Gly2Glu) variant of LDLR (Low-density lipoprotein receptor)
G2E (p.Gly2Glu) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- TOPMed rs1426542050
- gnomAD rs1426542050
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 9.65
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available