G690R (p.Gly690Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G690R (p.Gly690Arg) 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; Type 2 collagenopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
G690R (p.Gly690Arg) variant details
- p.Gly690Arg
- rs1321119554
- ClinGen CA384547543
- ClinVar RCV001972813
- gnomAD rs1321119554
- Pathogenic
- not provided; Type 2 collagenopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available