A3S (p.Ala3Ser) variant of LRP5 (O75197)
A3S (p.Ala3Ser) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 11-68312721-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.13
- CADD 14.70
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available