G31R (p.Gly31Arg) variant of LPA (Apolipoprotein(a))
G31R (p.Gly31Arg) in LPA (Apolipoprotein(a)) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G31R (p.Gly31Arg) variant details
- p.Gly31Arg
- 1000Genomes rs183171143
- ExAC rs183171143
- TOPMed rs183171143
- gnomAD rs183171143
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.20
- MetaLR 0.37
- MetaSVM -0.65
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available