K66T (p.Lys66Thr) variant of DMD (Dystrophin)
K66T (p.Lys66Thr) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
K66T (p.Lys66Thr) variant details
- p.Lys66Thr
- ExAC rs764523904
- gnomAD rs764523904
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.71
- MetaLR 0.91
- MetaSVM 1.02
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available