N116S (p.Asn116Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
N116S (p.Asn116Ser) 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 0.33 / 1. The record also includes published literature and structural context.
N116S (p.Asn116Ser) variant details
- p.Asn116Ser
- rs2078394504
- ClinGen CA351227408
- ClinVar RCV002894561
- TOPMed rs2078394504
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.06
- MetaLR 0.12
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.76
- MutPred 0.43
- 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)