G1155R (p.Gly1155Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G1155R (p.Gly1155Arg) 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 0.97 / 1. The record also includes published literature and structural context.
G1155R (p.Gly1155Arg) variant details
- p.Gly1155Arg
- rs2136516744
- ClinGen CA384537525
- ClinVar RCV001787265
- Ensembl rs2136516744
- Pathogenic
- Spondyloepiphyseal dysplasia congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia congenita)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)