S36F (p.Ser36Phe) variant of RBM20 (RNA-binding protein 20)
S36F (p.Ser36Phe) 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 0.32 / 1. The record also includes population frequency data and structural context.
S36F (p.Ser36Phe) variant details
- p.Ser36Phe
- TOPMed rs1861839456
- Uncertain significance
- Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.20
- MetaLR 0.47
- MetaSVM -0.46
- CADD 22.80
- PolyPhen-2 0.15
- SIFT 0.06
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1DD)
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available