G4R (p.Gly4Arg) variant of LRP2 (P98164)
G4R (p.Gly4Arg) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- rs781681275
- ClinGen CA349256996
- ClinVar RCV002630511
- ExAC rs781681275
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0587
- CADD 0.46
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available