P13L (p.Pro13Leu) variant of RBM20 (RNA-binding protein 20)
P13L (p.Pro13Leu) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar 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 0.38 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- Ensembl rs1328815012
- Uncertain significance
- Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.22
- MetaLR 0.44
- MetaSVM -0.18
- CADD 24.40
- PolyPhen-2 0.41
- SIFT 0.01
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1DD)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available