K15E (p.Lys15Glu) variant of LPA (Apolipoprotein(a))
K15E (p.Lys15Glu) in LPA (Apolipoprotein(a)) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K15E (p.Lys15Glu) variant details
- p.Lys15Glu
- rs2484226403
- ClinGen CA366351629
- ClinVar RCV004410508
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.13
- MetaLR 0.15
- MetaSVM -0.88
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available