V89A (p.Val89Ala) variant of DMD (Dystrophin)
V89A (p.Val89Ala) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V89A (p.Val89Ala) variant details
- p.Val89Ala
- rs1557058441
- ClinGen CA412674609
- ClinVar RCV000999386
- ClinVar RCV002249608
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.88
- MetaLR 0.93
- MetaSVM 1.07
- CADD 28.30
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)