G1185E (p.Gly1185Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G1185E (p.Gly1185Glu) 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 Spondyloepimetaphyseal dysplasia, Strudwick type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G1185E (p.Gly1185Glu) variant details
- p.Gly1185Glu
- rs2136514291
- ClinGen CA384537330
- ClinVar RCV001787266
- Ensembl rs2136514291
- Pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)