E17V (p.Glu17Val) variant of RBM20 (RNA-binding protein 20)
E17V (p.Glu17Val) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E17V (p.Glu17Val) variant details
- p.Glu17Val
- rs1443727983
- ClinGen CA378527418
- ClinVar RCV001090929
- gnomAD rs1443727983
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.38
- MetaLR 0.71
- MetaSVM -0.02
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available