D231E (p.Asp231Glu) variant of LPL (Lipoprotein lipase)
D231E (p.Asp231Glu) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
D231E (p.Asp231Glu) variant details
- p.Asp231Glu
- rs118204067
- ClinGen CA251866
- ClinVar RCV000001592
- UniProt VAR 004229
- Pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 23.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic (Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of… (PMID 11099402)
- Cited in: Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of… (PMID 15256764)