G4W (p.Gly4Trp) variant of LRP2 (P98164)
G4W (p.Gly4Trp) 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 0.10 / 1. The record also includes population frequency data and structural context.
G4W (p.Gly4Trp) variant details
- p.Gly4Trp
- ExAC rs781681275
- TOPMed rs781681275
- gnomAD rs781681275
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 7.39
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available