I111L (p.Ile111Leu) variant of DMD (Dystrophin)
I111L (p.Ile111Leu) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I111L (p.Ile111Leu) variant details
- p.Ile111Leu
- rs2078431806
- ClinGen CA412674471
- ClinVar RCV001237892
- ClinVar RCV001836194
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.65
- MetaLR 0.84
- MetaSVM 0.71
- CADD 19.40
- PolyPhen-2 0.38
- SIFT 0.75
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)