G666R (p.Gly666Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G666R (p.Gly666Arg) 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 Spondyloepimetaphyseal dysplasia, Strudwick type; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G666R (p.Gly666Arg) variant details
- p.Gly666Arg
- rs2136555177
- ClinGen CA384548157
- cosmic curated COSV10522
- ClinVar RCV001377342
- Pathogenic/Likely pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)