G33W (p.Gly33Trp) variant of DMD (Dystrophin)
G33W (p.Gly33Trp) 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 0.82 / 1. The record also includes population frequency data and structural context.
G33W (p.Gly33Trp) variant details
- p.Gly33Trp
- NCI-TCGA Cosmic COSV5586
- cosmic curated COSV55864
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.85
- MetaLR 0.93
- MetaSVM 1.08
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available