C23Y (p.Cys23Tyr) variant of LRP5 (O75197)
C23Y (p.Cys23Tyr) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
C23Y (p.Cys23Tyr) variant details
- p.Cys23Tyr
- gnomAD 11-68312782-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.20
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available