P22Q (p.Pro22Gln) variant of LRP2 (P98164)
P22Q (p.Pro22Gln) 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 0.32 / 1. The record also includes population frequency data and structural context.
P22Q (p.Pro22Gln) variant details
- p.Pro22Gln
- gnomAD rs867254167
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 9.71
- PolyPhen-2 0.01
- SIFT 0.52
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available