G1173R (p.Gly1173Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G1173R (p.Gly1173Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G1173R (p.Gly1173Arg) variant details
- p.Gly1173Arg
- rs121912883
- ClinGen CA250686
- ClinVar RCV000018924
- UniProt VAR 017651
- Pathogenic
- Spondyloepiphyseal dysplasia congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia congenita)
- EBI: Pathogenic (in SEDC)
- UniProt: Pathogenic (in SEDC)
- Structural context available
- Cited in: Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations… (PMID 10678662)
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)