A63D (p.Ala63Asp) variant of LRP2 (P98164)
A63D (p.Ala63Asp) 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 0.44 / 1. The record also includes population frequency data and structural context.
A63D (p.Ala63Asp) variant details
- p.Ala63Asp
- ESP rs150829296
- ExAC rs150829296
- TOPMed rs150829296
- gnomAD rs150829296
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 18.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available