V7A (p.Val7Ala) variant of DMD (Dystrophin)
V7A (p.Val7Ala) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- ExAC rs765870891
- TOPMed rs765870891
- gnomAD rs765870891
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.07
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available