P33R (p.Pro33Arg) variant of RBM20 (RNA-binding protein 20)
P33R (p.Pro33Arg) 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 Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P33R (p.Pro33Arg) variant details
- p.Pro33Arg
- rs2493192401
- ClinGen CA378527652
- ClinVar RCV003045193
- Uncertain significance
- Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.19
- MetaLR 0.44
- MetaSVM -0.47
- CADD 22.80
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1DD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)