A27P (p.Ala27Pro) variant of DMD (Dystrophin)
A27P (p.Ala27Pro) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
A27P (p.Ala27Pro) variant details
- p.Ala27Pro
- rs886043234
- ClinGen CA10605273
- ClinVar RCV000358079
- ClinVar RCV001859634
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.96
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.78
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)