L19R (p.Leu19Arg) variant of LRP5 (O75197)
L19R (p.Leu19Arg) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L19R (p.Leu19Arg) variant details
- p.Leu19Arg
- gnomAD 11-68312770-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.40
- CADD 21.80
- PolyPhen-2 0.77
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available