E27D (p.Glu27Asp) variant of LRP2 (P98164)
E27D (p.Glu27Asp) in LRP2 (P98164) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- ExAC rs772294760
- TOPMed rs772294760
- gnomAD rs772294760
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 16.00
- PolyPhen-2 0.18
- SIFT 0.35
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available