G78E (p.Gly78Glu) variant of LRP2 (P98164)
G78E (p.Gly78Glu) 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 0.33 / 1. The record also includes population frequency data and structural context.
G78E (p.Gly78Glu) variant details
- p.Gly78Glu
- rs546882372
- ClinGen CA349173804
- ClinVar RCV002958490
- 1000Genomes rs546882372
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 14.30
- PolyPhen-2 0.19
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available