N116K (p.Asn116Lys) variant of COL6A3 (Collagen alpha-3(VI) chain)
N116K (p.Asn116Lys) 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 0.37 / 1. The record also includes published literature and structural context.
N116K (p.Asn116Lys) variant details
- p.Asn116Lys
- rs2106388428
- ClinGen CA351227404
- ClinVar RCV001956740
- Ensembl rs2106388428
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- AlphaMissense 0.15
- MetaLR 0.23
- MetaSVM -0.84
- PolyPhen-2 0.42
- SIFT 0.23
- MutPred 0.66
- 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)