G85R (p.Gly85Arg) variant of COL6A3 (Collagen alpha-3(VI) chain)
G85R (p.Gly85Arg) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G85R (p.Gly85Arg) variant details
- p.Gly85Arg
- rs755587601
- ClinGen CA2189907
- NCI-TCGA Cosmic COSV5508
- ClinVar RCV000799815
- Conflicting interpretations
- not provided; Inborn genetic diseases; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.46
- MetaLR 0.31
- MetaSVM -0.68
- CADD 22.50
- PolyPhen-2 0.22
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)