Q218E (p.Gln218Glu) variant of LPA (Apolipoprotein(a))
Q218E (p.Gln218Glu) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
Q218E (p.Gln218Glu) variant details
- p.Gln218Glu
- gnomAD rs1454362755
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -0.92
- CADD 10.20
- PolyPhen-2 0.46
- SIFT 0.49
- Most common in the South Asian population (allele frequency 0.00053)
- Structural context available