F42V (p.Phe42Val) variant of COL6A3 (Collagen alpha-3(VI) chain)
F42V (p.Phe42Val) 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 not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
F42V (p.Phe42Val) variant details
- p.Phe42Val
- rs1559280207
- ClinGen CA351228385
- ClinVar RCV000731485
- ClinVar RCV003631155
- Uncertain significance
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- AlphaMissense 0.39
- MetaLR 0.71
- MetaSVM 0.56
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.80
- ClinVar: Uncertain significance (not provided; Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)