E27Q (p.Glu27Gln) variant of LRP2 (P98164)
E27Q (p.Glu27Gln) in LRP2 (P98164) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- gnomAD rs1486585687
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 24.90
- PolyPhen-2 0.20
- SIFT 0.41
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available