L14Q (p.Leu14Gln) variant of LRP5 (O75197)
L14Q (p.Leu14Gln) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- gnomAD 11-68312755-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.36
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available