G849A (p.Gly849Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
G849A (p.Gly849Ala) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Connective tissue disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
G849A (p.Gly849Ala) variant details
- p.Gly849Ala
- rs1939004215
- ClinGen CA384544500
- ClinVar RCV002278691
- Ensembl rs1939004215
- Likely pathogenic
- Connective tissue disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 0.85
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Connective tissue disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available