P19R (p.Pro19Arg) variant of RBM20 (RNA-binding protein 20)
P19R (p.Pro19Arg) 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 specified. 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.
P19R (p.Pro19Arg) variant details
- p.Pro19Arg
- rs727504766
- ClinGen CA184130
- ClinVar RCV000156078
- Ensembl rs727504766
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.31
- MetaLR 0.56
- MetaSVM -0.28
- CADD 24.30
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available