A21L (p.Ala21Leu) variant of LRP5 (O75197)
A21L (p.Ala21Leu) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A21L (p.Ala21Leu) variant details
- p.Ala21Leu
- gnomAD 11-68312774-G-GCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available