V83I (p.Val83Ile) variant of DMD (Dystrophin)
V83I (p.Val83Ile) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V83I (p.Val83Ile) variant details
- p.Val83Ile
- rs1358774744
- ClinGen CA412674667
- ClinVar RCV000605014
- ClinVar RCV001829725
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.30
- MetaLR 0.52
- MetaSVM -0.34
- CADD 14.30
- PolyPhen-2 0.09
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)