R270C (p.Arg270Cys) variant of LPL (Lipoprotein lipase)
R270C (p.Arg270Cys) 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; Hyperlipidemia, familial combined, LPL related; Hyperl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and published literature.
R270C (p.Arg270Cys) variant details
- p.Arg270Cys
- rs118204077
- ClinGen CA251886
- NCI-TCGA Cosmic COSV6092
- ClinVar RCV000001613
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL related; Hyperl
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL)
- 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: Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of… (PMID 7906986)