T22K (p.Thr22Lys) variant of DMD (Dystrophin)
T22K (p.Thr22Lys) in DMD (Dystrophin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
T22K (p.Thr22Lys) variant details
- p.Thr22Lys
- NCI-TCGA TCGA novel
- Ensembl rs1602766324
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.89
- MetaLR 0.92
- MetaSVM 1.06
- CADD 25.50
- PolyPhen-2 0.89
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available