V227A (p.Val227Ala) variant of LPL (Lipoprotein lipase)
V227A (p.Val227Ala) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
V227A (p.Val227Ala) variant details
- p.Val227Ala
- rs528243561
- ClinGen CA4655491
- ClinVar RCV003147058
- UniProt VAR 057928
- Likely pathogenic
- not provided; Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 27.00
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Cited in: Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of… (PMID 15256764)
- Cited in: Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a… (PMID 10660334)