I113V (p.Ile113Val) variant of LRP2 (P98164)
I113V (p.Ile113Val) in LRP2 (P98164) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
I113V (p.Ile113Val) variant details
- p.Ile113Val
- ExAC rs747650396
- TOPMed rs747650396
- gnomAD rs747650396
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 5.55
- PolyPhen-2 0.07
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available