G1185R (p.Gly1185Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G1185R (p.Gly1185Arg) 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.
G1185R (p.Gly1185Arg) variant details
- p.Gly1185Arg
- rs1938688718
- ClinGen CA384537332
- ClinVar RCV001257162
- Ensembl rs1938688718
- Pathogenic
- Spondyloepiphyseal dysplasia congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia congenita)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)