L17R (p.Leu17Arg) variant of LRP5 (O75197)
L17R (p.Leu17Arg) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L17R (p.Leu17Arg) variant details
- p.Leu17Arg
- gnomAD 11-68312764-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.30
- CADD 19.70
- PolyPhen-2 0.77
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available