G5D (p.Gly5Asp) variant of LDLR (Low-density lipoprotein receptor)
G5D (p.Gly5Asp) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- TOPMed rs989812477
- Missense
- Variant Prioritization Score for Impact Estimate 0.0957
- CADD 2.13
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available