D42Y (p.Asp42Tyr) variant of COL6A2 (Collagen alpha-2(VI) chain)
D42Y (p.Asp42Tyr) 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 Bethlem myopathy 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D42Y (p.Asp42Tyr) variant details
- p.Asp42Tyr
- rs754269869
- ClinGen CA410519942
- ClinVar RCV003104332
- ClinVar RCV004763590
- Uncertain significance
- Bethlem myopathy 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.50
- CADD 24.10
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Bethlem myopathy 1A; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)