K31E (p.Lys31Glu) variant of DMD (Dystrophin)
K31E (p.Lys31Glu) 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 0.77 / 1. The record also includes published literature and structural context.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- rs886044521
- ClinGen CA10606862
- ClinVar RCV000301034
- ClinVar RCV001859721
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.40
- MetaLR 0.86
- MetaSVM 0.90
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Practice parameter: corticosteroid treatment of Duchenne dystrophy [RETIRED]: report of the Quality Standards… (PMID 15642897)
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)