G1104E (p.Gly1104Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G1104E (p.Gly1104Glu) 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 not provided; Stickler syndrome type 1; Spondyloperipheral dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G1104E (p.Gly1104Glu) variant details
- p.Gly1104Glu
- rs886043356
- ClinGen CA10605424
- ClinVar RCV000377732
- ClinVar RCV000988818
- Pathogenic/Likely pathogenic
- not provided; Stickler syndrome type 1; Spondyloperipheral dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (not provided; Stickler syndrome type 1; Spondyloperipheral dyspl)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)
- Cited in: Stickler Syndrome. (PMID 20301479)