R48G (p.Arg48Gly) variant of DMD (Dystrophin)
R48G (p.Arg48Gly) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R48G (p.Arg48Gly) variant details
- p.Arg48Gly
- Ensembl rs1569533964
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.69
- MetaLR 0.83
- MetaSVM 0.56
- CADD 27.00
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available