I113L (p.Ile113Leu) variant of LRP2 (P98164)
I113L (p.Ile113Leu) in LRP2 (P98164) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I113L (p.Ile113Leu) variant details
- p.Ile113Leu
- ExAC rs747650396
- TOPMed rs747650396
- gnomAD rs747650396
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 5.92
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available