G47A (p.Gly47Ala) variant of DMD (Dystrophin)
G47A (p.Gly47Ala) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G47A (p.Gly47Ala) variant details
- p.Gly47Ala
- rs398123860
- ClinGen CA10606791
- ClinVar RCV000271972
- Ensembl rs398123860
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.88
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available