G289D (p.Gly289Asp) variant of COL6A2 (Collagen alpha-2(VI) chain)
G289D (p.Gly289Asp) in COL6A2 (Collagen alpha-2(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 1B; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G289D (p.Gly289Asp) variant details
- p.Gly289Asp
- rs886043554
- ClinGen CA10605653
- ClinVar RCV000356935
- ClinVar RCV005869217
- Likely pathogenic
- Ullrich congenital muscular dystrophy 1B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Ullrich congenital muscular dystrophy 1B; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)