A80T (p.Ala80Thr) variant of DMD (Dystrophin)
A80T (p.Ala80Thr) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A80T (p.Ala80Thr) variant details
- p.Ala80Thr
- TOPMed rs1217911765
- gnomAD rs1217911765
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.84
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available