A4S (p.Ala4Ser) variant of LRP5 (O75197)
A4S (p.Ala4Ser) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 11-68312724-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.25
- CADD 16.30
- PolyPhen-2 0.36
- Population evidence available
- Structural context available
- Literature evidence available