L12A (p.Leu12Ala) variant of LRP5 (O75197)
L12A (p.Leu12Ala) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L12A (p.Leu12Ala) variant details
- p.Leu12Ala
- gnomAD 11-68312745-CCG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 15.70
- Population evidence available
- Structural context available
- Literature evidence available