Q30R (p.Gln30Arg) variant of LPL (Lipoprotein lipase)
Q30R (p.Gln30Arg) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
Q30R (p.Gln30Arg) variant details
- p.Gln30Arg
- rs780666488
- ClinGen CA4655315
- ClinVar RCV002376318
- ExAC rs780666488
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available