R70G (p.Arg70Gly) variant of DMD (Dystrophin)
R70G (p.Arg70Gly) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Duchenne muscular dystrophy. 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.
R70G (p.Arg70Gly) variant details
- p.Arg70Gly
- cosmic curated COSV10730
- gnomAD rs2080510348
- Uncertain significance
- Duchenne muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.85
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.05
- CADD 24.90
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Duchenne muscular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available