L14C (p.Leu14Cys) variant of LRP5 (O75197)
L14C (p.Leu14Cys) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L14C (p.Leu14Cys) variant details
- p.Leu14Cys
- gnomAD 11-68312753-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 17.00
- Population evidence available
- Structural context available
- Literature evidence available