V100L (p.Val100Leu) variant of DMD (Dystrophin)
V100L (p.Val100Leu) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
V100L (p.Val100Leu) variant details
- p.Val100Leu
- rs779099343
- ClinGen CA412674538
- ClinVar RCV003146164
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 0.23
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available