T45I (p.Thr45Ile) variant of LPA (Apolipoprotein(a))
T45I (p.Thr45Ile) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T45I (p.Thr45Ile) variant details
- p.Thr45Ile
- ExAC rs778426779
- TOPMed rs778426779
- gnomAD rs778426779
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.25
- MetaLR 0.20
- MetaSVM -0.86
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available