R30G (p.Arg30Gly) variant of RBM20 (RNA-binding protein 20)
R30G (p.Arg30Gly) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- rs1377317350
- ClinGen CA378527600
- ClinVar RCV002376047
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.15
- MetaLR 0.42
- MetaSVM -0.41
- SIFT 0.02
- MutPred 0.20
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available