Q68R (p.Gln68Arg) variant of LRP2 (P98164)
Q68R (p.Gln68Arg) 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 0.07 / 1. The record also includes population frequency data and structural context.
Q68R (p.Gln68Arg) variant details
- p.Gln68Arg
- rs2105513338
- ClinGen CA349173938
- ClinVar RCV001971725
- Ensembl rs2105513338
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0712
- CADD 0.16
- PolyPhen-2 0.12
- SIFT 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available