S106I (p.Ser106Ile) variant of LRP2 (P98164)
S106I (p.Ser106Ile) in LRP2 (P98164) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
S106I (p.Ser106Ile) variant details
- p.Ser106Ile
- ExAC rs759417883
- TOPMed rs759417883
- gnomAD rs759417883
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0556
- CADD 0.11
- PolyPhen-2 0.01
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available