G78A (p.Gly78Ala) variant of LRP2 (P98164)
G78A (p.Gly78Ala) 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 0.36 / 1. The record also includes population frequency data and structural context.
G78A (p.Gly78Ala) variant details
- p.Gly78Ala
- rs546882372
- ClinGen CA1955950
- ClinVar RCV002994564
- 1000Genomes rs546882372
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 17.00
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available