L17Q (p.Leu17Gln) variant of LRP5 (O75197)
L17Q (p.Leu17Gln) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- gnomAD 11-68312764-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.31
- CADD 20.50
- PolyPhen-2 0.77
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available