A27V (p.Ala27Val) variant of DMD (Dystrophin)
A27V (p.Ala27Val) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- rs763407275
- ClinGen CA10380272
- ClinVar RCV001301338
- ClinVar RCV001835442
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.48
- MetaLR 0.81
- MetaSVM 0.68
- CADD 25.80
- PolyPhen-2 0.62
- SIFT 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)