G840D (p.Gly840Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G840D (p.Gly840Asp) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G840D (p.Gly840Asp) variant details
- p.Gly840Asp
- rs2136538046
- ClinGen CA384544556
- ClinVar RCV002249000
- Ensembl rs2136538046
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Stickler Syndrome. (PMID 20301479)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)