p.Ala21 Leu22del variant of LRP5 (O75197)
p.Ala21 Leu22del in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala21 Leu22del variant details
- gnomAD 11-68312770-TGCTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.201
- CADD 12.70
- Population evidence available
- Structural context available
- Literature evidence available