C15F (p.Cys15Phe) variant of COL6A1 (Collagen alpha-1(VI) chain)
C15F (p.Cys15Phe) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
C15F (p.Cys15Phe) variant details
- p.Cys15Phe
- rs776678940
- ClinGen CA10069426
- ClinVar RCV003044526
- ExAC rs776678940
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.49
- CADD 22.10
- PolyPhen-2 0.45
- SIFT 0.25
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)