H4R (p.His4Arg) variant of COL6A3 (Collagen alpha-3(VI) chain)
H4R (p.His4Arg) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
H4R (p.His4Arg) variant details
- p.His4Arg
- rs777465480
- ClinGen CA2189974
- ClinVar RCV002583712
- ExAC rs777465480
- Likely benign
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.49
- MetaLR 0.75
- MetaSVM 0.15
- CADD 25.10
- PolyPhen-2 0.92
- SIFT 0.41
- ClinVar: Likely benign (Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)