G85E (p.Gly85Glu) variant of COL6A3 (Collagen alpha-3(VI) chain)
G85E (p.Gly85Glu) 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; Inborn genetic diseases; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G85E (p.Gly85Glu) variant details
- p.Gly85Glu
- rs369814614
- ClinGen CA2189906
- ClinVar RCV001215986
- ClinVar RCV001751402
- Conflicting interpretations
- not provided; Inborn genetic diseases; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.52
- MetaLR 0.37
- MetaSVM -0.65
- CADD 23.10
- PolyPhen-2 0.70
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)