S68A (p.Ser68Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
S68A (p.Ser68Ala) in COL6A3 (Collagen alpha-3(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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S68A (p.Ser68Ala) variant details
- p.Ser68Ala
- rs372628119
- ClinGen CA2189918
- ClinVar RCV003632936
- ESP rs372628119
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.11
- MetaLR 0.20
- MetaSVM -0.95
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)