L13A (p.Leu13Ala) variant of LRP5 (O75197)
L13A (p.Leu13Ala) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L13A (p.Leu13Ala) variant details
- p.Leu13Ala
- gnomAD 11-68312749-TGC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.205
- CADD 17.60
- Population evidence available
- Structural context available
- Literature evidence available