A11G (p.Ala11Gly) variant of RBM20 (RNA-binding protein 20)
A11G (p.Ala11Gly) 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 0.37 / 1. The record also includes population frequency data and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- Ensembl rs794726895
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.29
- MetaLR 0.51
- MetaSVM -0.36
- CADD 22.90
- PolyPhen-2 0.56
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available