D231N (p.Asp231Asn) variant of LPL (Lipoprotein lipase)
D231N (p.Asp231Asn) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperlipidemia, familial combined, LPL related. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and published literature.
D231N (p.Asp231Asn) variant details
- p.Asp231Asn
- rs2128838188
- ClinGen CA370468559
- ClinVar RCV002250097
- Ensembl rs2128838188
- Pathogenic
- Hyperlipidemia, familial combined, LPL related
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- CADD 29.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic (Hyperlipidemia, familial combined, LPL related)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)