L16A (p.Leu16Ala) variant of LRP5 (O75197)
L16A (p.Leu16Ala) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L16A (p.Leu16Ala) variant details
- p.Leu16Ala
- gnomAD 11-68312759-GCT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 19.60
- Population evidence available
- Structural context available
- Literature evidence available