T217K (p.Thr217Lys) variant of LPA (Apolipoprotein(a))
T217K (p.Thr217Lys) 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.
T217K (p.Thr217Lys) variant details
- p.Thr217Lys
- TOPMed rs1779835311
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.15
- MetaLR 0.05
- MetaSVM -1.06
- CADD 6.11
- PolyPhen-2 0.99
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 4.4e-06)
- Structural context available