C23F (p.Cys23Phe) variant of LRP5 (O75197)
C23F (p.Cys23Phe) 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.
C23F (p.Cys23Phe) variant details
- p.Cys23Phe
- gnomAD 11-68312782-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.22
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available