P38R (p.Pro38Arg) variant of RBM20 (RNA-binding protein 20)
P38R (p.Pro38Arg) 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; Primary familial hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- TOPMed rs1335624183
- gnomAD rs1335624183
- Uncertain significance
- Cardiovascular phenotype; Primary familial hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.17
- MetaLR 0.33
- MetaSVM -0.78
- CADD 19.50
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Primary familial hypertrophic cardiomy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available