M7L (p.Met7Leu) variant of RBM20 (RNA-binding protein 20)
M7L (p.Met7Leu) 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 0.41 / 1. The record also includes population frequency data and structural context.
M7L (p.Met7Leu) variant details
- p.Met7Leu
- rs1590590851
- ClinGen CA378527283
- ClinVar RCV000788398
- Ensembl rs1590590851
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.30
- MetaLR 0.45
- MetaSVM -0.54
- CADD 23.80
- PolyPhen-2 0.11
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available