P38L (p.Pro38Leu) variant of RBM20 (RNA-binding protein 20)
P38L (p.Pro38Leu) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- TOPMed rs1335624183
- gnomAD rs1335624183
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.20
- MetaLR 0.32
- MetaSVM -0.71
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available