D183G (p.Asp183Gly) variant of LPL (Lipoprotein lipase)
D183G (p.Asp183Gly) 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 0.97 / 1. The record also includes published literature.
D183G (p.Asp183Gly) variant details
- p.Asp183Gly
- rs118204064
- ClinGen CA251872
- ClinVar RCV000001597
- UniProt VAR 004217
- Pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Cited in: Human lipoprotein lipase. Analysis of the catalytic triad by site-directed mutagenesis of Ser-132, Asp-156, and His-241. (PMID 1371284)
- Cited in: Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic… (PMID 1730727)