G1197R (p.Gly1197Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G1197R (p.Gly1197Arg) 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 congenita; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G1197R (p.Gly1197Arg) variant details
- p.Gly1197Arg
- rs121912870
- ClinGen CA384537268
- ClinVar RCV001787267
- ClinVar RCV001885207
- Pathogenic
- Spondyloepiphyseal dysplasia congenita; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.82
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia congenita; not provided)
- EBI: Pathogenic (in SEDC)
- UniProt: Pathogenic (in SEDC)
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)