C23S (p.Cys23Ser) variant of LRP5 (O75197)
C23S (p.Cys23Ser) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C23S (p.Cys23Ser) variant details
- p.Cys23Ser
- gnomAD 11-68312781-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 19.90
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available