E31G (p.Glu31Gly) variant of LDLR (Low-density lipoprotein receptor)
E31G (p.Glu31Gly) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E31G (p.Glu31Gly) variant details
- p.Glu31Gly
- cosmic curated COSV10457
- 1000Genomes rs533807762
- ExAC rs533807762
- gnomAD rs533807762
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 27.60
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available