V100I (p.Val100Ile) variant of DMD (Dystrophin)
V100I (p.Val100Ile) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V100I (p.Val100Ile) variant details
- p.Val100Ile
- rs779099343
- ClinGen CA10380189
- ClinVar RCV000219870
- ClinVar RCV001828073
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.69
- AlphaMissense 0.23
- MetaLR 0.93
- MetaSVM 1.06
- CADD 24.70
- PolyPhen-2 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5e-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)