E2* (p.Glu2Ter) variant of LRP5 (O75197)
E2* (p.Glu2Ter) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- gnomAD 11-68312718-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 36.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00024)
- Structural context available
- Literature evidence available