E212D (p.Glu212Asp) variant of LPA (Apolipoprotein(a))
E212D (p.Glu212Asp) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E212D (p.Glu212Asp) variant details
- p.Glu212Asp
- gnomAD rs1194947191
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.21
- MetaLR 0.21
- MetaSVM -0.50
- CADD 20.50
- PolyPhen-2 0.95
- SIFT 0.81
- Most common in the Latino/Admixed American population (allele frequency 0.00032)
- Structural context available