G59E (p.Gly59Glu) variant of DMD (Dystrophin)
G59E (p.Gly59Glu) 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 0.71 / 1. The record also includes population frequency data and structural context.
G59E (p.Gly59Glu) variant details
- p.Gly59Glu
- NCI-TCGA Cosmic COSV5588
- cosmic curated COSV55881
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.73
- MetaLR 0.91
- MetaSVM 0.83
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available