C23* (p.Cys23Ter) variant of LRP5 (O75197)
C23* (p.Cys23Ter) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C23* (p.Cys23Ter) variant details
- p.Cys23Ter
- gnomAD 11-68312783-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available