A9G (p.Ala9Gly) variant of LRP2 (P98164)
A9G (p.Ala9Gly) 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 0.47 / 1. The record also includes population frequency data and structural context.
A9G (p.Ala9Gly) variant details
- p.Ala9Gly
- TOPMed rs1196519126
- gnomAD rs1196519126
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 13.80
- PolyPhen-2 0.18
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available