Q35P (p.Gln35Pro) variant of DMD (Dystrophin)
Q35P (p.Gln35Pro) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q35P (p.Gln35Pro) variant details
- p.Gln35Pro
- rs1477107648
- ClinGen CA412674986
- ClinVar RCV000731591
- ClinVar RCV001221297
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.43
- MetaLR 0.52
- MetaSVM -0.03
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)