C6S (p.Cys6Ser) variant of COL6A2 (Collagen alpha-2(VI) chain)
C6S (p.Cys6Ser) in COL6A2 (Collagen alpha-2(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; Myosclerosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
C6S (p.Cys6Ser) variant details
- p.Cys6Ser
- rs2078397289
- ClinGen CA410519025
- ClinVar RCV001334960
- ClinVar RCV002295338
- Uncertain significance
- Bethlem myopathy 1A; Myosclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.23
- CADD 6.08
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Bethlem myopathy 1A; Myosclerosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)