E2G (p.Glu2Gly) variant of LRP5 (O75197)
E2G (p.Glu2Gly) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD 11-68312718-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 23.30
- Most common in the South Asian population (allele frequency 4.2e-05)
- Structural context available
- Literature evidence available