G669S (p.Gly669Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G669S (p.Gly669Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of COL2A1-related disorder; Connective tissue disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G669S (p.Gly669Ser) variant details
- p.Gly669Ser
- rs1939205327
- ClinGen CA384548087
- ClinVar RCV001787123
- ClinVar RCV002276622
- Pathogenic/Likely pathogenic
- COL2A1-related disorder; Connective tissue disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.92
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.74
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic/Likely pathogenic (COL2A1-related disorder; Connective tissue disorder; not provide)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)