D64A (p.Asp64Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
D64A (p.Asp64Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
D64A (p.Asp64Ala) variant details
- p.Asp64Ala
- rs768274647
- ClinGen CA351228227
- ClinVar RCV001224968
- ExAC rs768274647
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.17
- MetaLR 0.38
- MetaSVM -0.57
- PolyPhen-2 0.80
- SIFT 0.06
- MutPred 0.60
- ClinVar: Uncertain significance (Bethlem myopathy 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)