G1092D (p.Gly1092Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G1092D (p.Gly1092Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spondyloepiphyseal dysplasia congenita; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G1092D (p.Gly1092Asp) variant details
- p.Gly1092Asp
- rs794727684
- ClinGen CA251242
- ClinVar RCV000178624
- ClinVar RCV005055085
- Pathogenic/Likely pathogenic
- Spondyloepiphyseal dysplasia congenita; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Spondyloepiphyseal dysplasia congenita; not provided)
- EBI: Pathogenic (in SMDALG)
- UniProt: Pathogenic (in SMDALG)
- Structural context available
- Cited in: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1. (PMID 38162154)
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)