A27E (p.Ala27Glu) variant of DMD (Dystrophin)
A27E (p.Ala27Glu) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A27E (p.Ala27Glu) variant details
- p.Ala27Glu
- rs763407275
- ClinGen CA412675241
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99919
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.71
- MetaLR 0.78
- MetaSVM 0.62
- CADD 24.90
- PolyPhen-2 0.75
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)