A6E (p.Ala6Glu) variant of LRP2 (P98164)
A6E (p.Ala6Glu) 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.
A6E (p.Ala6Glu) variant details
- p.Ala6Glu
- rs878853100
- ClinGen CA10581410
- ClinVar RCV000224450
- gnomAD rs878853100
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 13.80
- PolyPhen-2 0.07
- SIFT 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available