A4E (p.Ala4Glu) variant of LRP5 (O75197)
A4E (p.Ala4Glu) 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 and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- gnomAD rs1389034811
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.26
- CADD 20.50
- PolyPhen-2 0.73
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available