M7T (p.Met7Thr) variant of RBM20 (RNA-binding protein 20)
M7T (p.Met7Thr) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
M7T (p.Met7Thr) variant details
- p.Met7Thr
- rs1027203249
- ClinGen CA378527287
- ClinVar RCV002424205
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.43
- MetaLR 0.46
- MetaSVM -0.26
- CADD 24.10
- PolyPhen-2 0.32
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available