H54R (p.His54Arg) variant of COL6A3 (Collagen alpha-3(VI) chain)
H54R (p.His54Arg) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H54R (p.His54Arg) variant details
- p.His54Arg
- rs938595503
- ClinGen CA67842498
- ClinVar RCV002613758
- Ensembl rs938595503
- Conflicting interpretations
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.11
- MetaLR 0.17
- MetaSVM -0.99
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (not provided; Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)