E90V (p.Glu90Val) variant of COL6A3 (Collagen alpha-3(VI) chain)
E90V (p.Glu90Val) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ullrich congenital muscular dystrophy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
E90V (p.Glu90Val) variant details
- p.Glu90Val
- rs2078397283
- ClinGen CA351227811
- ClinVar RCV001196660
- Ensembl rs2078397283
- Uncertain significance
- Ullrich congenital muscular dystrophy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.35
- MetaLR 0.61
- MetaSVM -0.20
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.77
- ClinVar: Uncertain significance (Ullrich congenital muscular dystrophy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)