A25D (p.Ala25Asp) variant of COL6A3 (Collagen alpha-3(VI) chain)
A25D (p.Ala25Asp) 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 Bethlem myopathy 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
A25D (p.Ala25Asp) variant details
- p.Ala25Asp
- rs398124134
- ClinGen CA222655
- ClinVar RCV000080992
- ClinVar RCV001854428
- Uncertain significance
- Bethlem myopathy 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- AlphaMissense 0.17
- MetaLR 0.76
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.27
- ClinVar: Uncertain significance (Bethlem myopathy 1A; not provided)
- 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)