A203T (p.Ala203Thr) variant of LPL (Lipoprotein lipase)
A203T (p.Ala203Thr) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and published literature.
A203T (p.Ala203Thr) variant details
- p.Ala203Thr
- rs118204056
- ClinGen CA251860
- ClinVar RCV000001583
- UniProt VAR 004222
- Likely pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene. (PMID 11893776)
- Cited in: Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and… (PMID 2110364)