G37S (p.Gly37Ser) variant of RBM20 (RNA-binding protein 20)
G37S (p.Gly37Ser) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G37S (p.Gly37Ser) variant details
- p.Gly37Ser
- TOPMed rs1327144634
- gnomAD rs1327144634
- Uncertain significance
- Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.37
- MetaLR 0.36
- MetaSVM -0.57
- CADD 24.10
- PolyPhen-2 0.39
- SIFT 0.04
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1DD)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available