Q50E (p.Gln50Glu) variant of LPA (Apolipoprotein(a))
Q50E (p.Gln50Glu) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q50E (p.Gln50Glu) variant details
- p.Gln50Glu
- TOPMed rs1779982038
- gnomAD rs1779982038
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.29
- MetaLR 0.37
- MetaSVM -0.66
- CADD 21.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available