I37L (p.Ile37Leu) variant of DMD (Dystrophin)
I37L (p.Ile37Leu) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
I37L (p.Ile37Leu) variant details
- p.Ile37Leu
- ExAC rs763415074
- TOPMed rs763415074
- gnomAD rs763415074
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.74
- MetaLR 0.94
- MetaSVM 1.07
- CADD 25.40
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available