K318N (p.Lys318Asn) variant of COL6A2 (Collagen alpha-2(VI) chain)
K318N (p.Lys318Asn) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
K318N (p.Lys318Asn) variant details
- p.Lys318Asn
- rs878854362
- ClinGen CA410527027
- ClinVar RCV001386985
- Ensembl rs878854362
- Pathogenic
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.90
- MetaLR 0.83
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Bethlem myopathy 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)