R2K (p.Arg2Lys) variant of COL6A1 (Collagen alpha-1(VI) chain)
R2K (p.Arg2Lys) in COL6A1 (Collagen alpha-1(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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- rs1305504243
- ClinGen CA410513724
- ClinVar RCV000700263
- gnomAD rs1305504243
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.16
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)