V47M (p.Val47Met) variant of COL6A2 (Collagen alpha-2(VI) chain)
V47M (p.Val47Met) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V47M (p.Val47Met) variant details
- p.Val47Met
- rs370171967
- ClinGen CA10071219
- ClinVar RCV000593689
- ClinVar RCV001215044
- Conflicting interpretations
- Inborn genetic diseases; not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.56
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)