S271T (p.Ser271Thr) variant of LPL (Lipoprotein lipase)
S271T (p.Ser271Thr) 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 0.90 / 1. The record also includes published literature.
S271T (p.Ser271Thr) variant details
- p.Ser271Thr
- rs118204059
- ClinGen CA251864
- ClinVar RCV000001589
- UniProt VAR 004234
- Pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.81
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Cited in: Founder effect in familial hyperchylomicronemia among French Canadians of Quebec. (PMID 1937490)
- Cited in: Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2… (PMID 2121025)