G7E (p.Gly7Glu) variant of LRP5 (O75197)
G7E (p.Gly7Glu) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G7E (p.Gly7Glu) variant details
- p.Gly7Glu
- gnomAD 11-68312734-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.22
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available