L108P (p.Leu108Pro) variant of DMD (Dystrophin)
L108P (p.Leu108Pro) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
L108P (p.Leu108Pro) variant details
- p.Leu108Pro
- rs1557058350
- ClinGen CA412674484
- ClinVar RCV000630561
- Ensembl rs1557058350
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Practice parameter: corticosteroid treatment of Duchenne dystrophy [RETIRED]: report of the Quality Standards… (PMID 15642897)
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)