Q18L (p.Gln18Leu) variant of RBM20 (RNA-binding protein 20)
Q18L (p.Gln18Leu) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q18L (p.Gln18Leu) variant details
- p.Gln18Leu
- Ensembl rs1590590891
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.35
- MetaLR 0.52
- MetaSVM -0.43
- CADD 18.90
- PolyPhen-2 0.16
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available