G1008C (p.Gly1008Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
G1008C (p.Gly1008Cys) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Connective tissue disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G1008C (p.Gly1008Cys) variant details
- p.Gly1008Cys
- rs2136525233
- ClinGen CA384540933
- ClinVar RCV002278694
- Ensembl rs2136525233
- Likely pathogenic
- Connective tissue disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Connective tissue disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available