C23R (p.Cys23Arg) variant of LRP5 (O75197)
C23R (p.Cys23Arg) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
C23R (p.Cys23Arg) variant details
- p.Cys23Arg
- gnomAD 11-68312781-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.22
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available