G102R (p.Gly102Arg) variant of DMD (Dystrophin)
G102R (p.Gly102Arg) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G102R (p.Gly102Arg) variant details
- p.Gly102Arg
- TOPMed rs1263846042
- gnomAD rs1263846042
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.93
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available