S56N (p.Ser56Asn) variant of COL6A2 (Collagen alpha-2(VI) chain)
S56N (p.Ser56Asn) 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 not provided; Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
S56N (p.Ser56Asn) variant details
- p.Ser56Asn
- rs1555871311
- ClinGen CA410520105
- ClinVar RCV000554954
- ClinVar RCV000594605
- Uncertain significance
- not provided; Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.71
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Ullrich congenital muscular dystrophy 1A; Bethlem)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)