E38K (p.Glu38Lys) variant of LPL (Lipoprotein lipase)
E38K (p.Glu38Lys) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- rs557015233
- ClinGen CA4655321
- ClinVar RCV000932549
- ClinVar RCV001159216
- Conflicting interpretations
- not specified; not provided; Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 21.40
- PolyPhen-2 0.20
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Hyperlipoproteinemia, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:STU population (allele frequency 0.01)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: LMNA-Related Dilated Cardiomyopathy. (PMID 20301717)