A361T (p.Ala361Thr) variant of LPL (Lipoprotein lipase)
A361T (p.Ala361Thr) 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 0.27 / 1. The record also includes population frequency data and published literature.
A361T (p.Ala361Thr) variant details
- p.Ala361Thr
- rs118204071
- ClinGen CA251881
- ClinVar RCV000001608
- ClinVar RCV002247233
- Pathogenic
- Hyperlipidemia, familial combined, LPL related
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- MetaLR 0.10
- MetaSVM -0.94
- CADD 16.00
- PolyPhen-2 0.14
- SIFT 0.60
- ClinVar: Pathogenic (Hyperlipidemia, familial combined, LPL related)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of… (PMID 15256764)
- Cited in: A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia. (PMID 8096693)