G95V (p.Gly95Val) variant of DMD (Dystrophin)
G95V (p.Gly95Val) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G95V (p.Gly95Val) variant details
- p.Gly95Val
- rs1381812538
- ClinGen CA412674567
- ClinVar RCV000552068
- ClinVar RCV001834727
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.95
- MetaLR 0.92
- MetaSVM 1.05
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)