G358W (p.Gly358Trp) variant of COL6A2 (Collagen alpha-2(VI) chain)
G358W (p.Gly358Trp) 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 Collagen 6-related myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G358W (p.Gly358Trp) variant details
- p.Gly358Trp
- rs2078499825
- ClinGen CA410527516
- ClinVar RCV001249754
- Ensembl rs2078499825
- Likely pathogenic
- Collagen 6-related myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Collagen 6-related myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)