L40I (p.Leu40Ile) variant of DMD (Dystrophin)
L40I (p.Leu40Ile) in DMD (Dystrophin) 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 0.75 / 1. The record also includes population frequency data and structural context.
L40I (p.Leu40Ile) variant details
- p.Leu40Ile
- TOPMed rs1001154410
- gnomAD rs1001154410
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.72
- MetaLR 0.95
- MetaSVM 1.08
- CADD 23.40
- PolyPhen-2 0.83
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available