G2080C (p.Gly2080Cys) variant of COL6A3 (Collagen alpha-3(VI) chain)
G2080C (p.Gly2080Cys) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ullrich congenital muscular dystrophy 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.
G2080C (p.Gly2080Cys) variant details
- p.Gly2080Cys
- rs1553553625
- ClinGen CA351216633
- ClinVar RCV003454380
- Likely pathogenic
- Ullrich congenital muscular dystrophy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (Ullrich congenital muscular dystrophy 1A)
- EBI: Likely pathogenic (in BTHLM1C)
- UniProt: Likely pathogenic (in BTHLM1C)
- 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)