R270H (p.Arg270His) variant of LPL (Lipoprotein lipase)
R270H (p.Arg270His) 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 Cardiovascular phenotype; not provided; Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and published literature.
R270H (p.Arg270His) variant details
- p.Arg270His
- rs118204062
- ClinGen CA251868
- NCI-TCGA Cosmic COSV1002
- ClinVar RCV000001594
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Hyperlipoproteinemia, ty)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the African/African-American population (allele frequency 2.4e-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 (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein… (PMID 1619366)