V25A (p.Val25Ala) variant of DMD (Dystrophin)
V25A (p.Val25Ala) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V25A (p.Val25Ala) variant details
- p.Val25Ala
- rs886039061
- ClinGen CA10587980
- ClinVar RCV000248930
- ClinVar RCV000393621
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.61
- MetaLR 0.82
- MetaSVM 0.64
- CADD 23.70
- PolyPhen-2 0.12
- SIFT 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)