H46Y (p.His46Tyr) variant of COL6A2 (Collagen alpha-2(VI) chain)
H46Y (p.His46Tyr) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H46Y (p.His46Tyr) variant details
- p.His46Tyr
- rs144735844
- ClinGen CA321957134
- ClinVar RCV002022922
- ClinVar RCV004046734
- Uncertain significance
- Inborn genetic diseases; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.35
- CADD 8.94
- PolyPhen-2 0.20
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)