I99V (p.Ile99Val) variant of DMD (Dystrophin)
I99V (p.Ile99Val) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
I99V (p.Ile99Val) variant details
- p.Ile99Val
- rs149428656
- ClinGen CA295602
- ClinVar RCV000212485
- ClinVar RCV000515266
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.83
- MetaLR 0.95
- MetaSVM 1.10
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-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)