E22K (p.Glu22Lys) variant of COL6A1 (Collagen alpha-1(VI) chain)
E22K (p.Glu22Lys) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs1461577118
- ClinGen CA410513978
- ClinVar RCV001321234
- gnomAD rs1461577118
- Likely benign
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.24
- CADD 0.60
- PolyPhen-2 0.01
- SIFT 0.92
- ClinVar: Likely benign (Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 3.5e-05)
- 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)