G181R (p.Gly181Arg) variant of LPL (Lipoprotein lipase)
G181R (p.Gly181Arg) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data.
G181R (p.Gly181Arg) variant details
- p.Gly181Arg
- rs747009924
- ClinGen CA370468243
- ClinVar RCV001385519
- ExAC rs747009924
- Pathogenic/Likely pathogenic
- not provided; Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- MetaLR 0.94
- MetaSVM 1.09
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the South Asian population (allele frequency 1.2e-05)