G2080D (p.Gly2080Asp) variant of COL6A3 (Collagen alpha-3(VI) chain)
G2080D (p.Gly2080Asp) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G2080D (p.Gly2080Asp) variant details
- p.Gly2080Asp
- rs794727188
- ClinGen CA275040
- cosmic curated COSV55084
- ClinVar RCV000175185
- Pathogenic
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (not provided; Bethlem myopathy 1A)
- EBI: Pathogenic (in BTHLM1C)
- UniProt: Pathogenic (in BTHLM1C)
- Structural context available
- Cited in: Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular… (PMID 15689448)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)