R37Q (p.Arg37Gln) variant of LPA (Apolipoprotein(a))
R37Q (p.Arg37Gln) in LPA (Apolipoprotein(a)) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- rs775410119
- NCI-TCGA Cosmic COSV6029
- ExAC rs775410119
- TOPMed rs775410119
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.16
- MetaLR 0.14
- MetaSVM -0.89
- CADD 16.90
- PolyPhen-2 0.24
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available