R37G (p.Arg37Gly) variant of LPA (Apolipoprotein(a))
R37G (p.Arg37Gly) in LPA (Apolipoprotein(a)) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R37G (p.Arg37Gly) variant details
- p.Arg37Gly
- rs121912503
- NCI-TCGA Cosmic COSV6029
- ExAC rs121912503
- TOPMed rs121912503
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.35
- MetaLR 0.41
- MetaSVM -0.34
- CADD 23.60
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available