P19T (p.Pro19Thr) variant of RBM20 (RNA-binding protein 20)
P19T (p.Pro19Thr) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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, published literature, and structural context.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- rs1353436698
- ClinGen CA378527443
- ClinVar RCV001881523
- TOPMed rs1353436698
- Likely benign
- Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.22
- MetaLR 0.48
- MetaSVM -0.52
- CADD 22.60
- PolyPhen-2 0.73
- SIFT 0.01
- ClinVar: Likely benign (Dilated cardiomyopathy 1DD)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)