G654S (p.Gly654Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G654S (p.Gly654Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spondyloepiphyseal dysplasia, Stanescu type; Type 2 collagenopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G654S (p.Gly654Ser) variant details
- p.Gly654Ser
- rs1322543333
- ClinGen CA384548528
- ClinVar RCV002005483
- gnomAD rs1322543333
- Pathogenic
- Spondyloepiphyseal dysplasia, Stanescu type; Type 2 collagenopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available