P27H (p.Pro27His) variant of RBM20 (RNA-binding protein 20)
P27H (p.Pro27His) 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 Cardiovascular phenotype; Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P27H (p.Pro27His) variant details
- p.Pro27His
- rs1216101068
- ClinGen CA378527555
- ClinVar RCV003213755
- ClinVar RCV005101383
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.18
- MetaLR 0.49
- MetaSVM -0.51
- CADD 23.80
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1DD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)