L20Q (p.Leu20Gln) variant of LRP5 (O75197)
L20Q (p.Leu20Gln) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L20Q (p.Leu20Gln) variant details
- p.Leu20Gln
- gnomAD 11-68312773-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.40
- CADD 21.90
- PolyPhen-2 0.77
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available