F61S (p.Phe61Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
F61S (p.Phe61Ser) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
F61S (p.Phe61Ser) variant details
- p.Phe61Ser
- rs375649083
- ClinGen CA2189922
- ClinVar RCV001342944
- ESP rs375649083
- Likely benign
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.88
- MetaLR 0.83
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)