G109A (p.Gly109Ala) variant of DMD (Dystrophin)
G109A (p.Gly109Ala) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G109A (p.Gly109Ala) variant details
- p.Gly109Ala
- rs1048652498
- ClinGen CA328575130
- ClinVar RCV001322688
- ClinVar RCV001830975
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.92
- MetaLR 0.93
- MetaSVM 1.07
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)