G621E (p.Gly621Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G621E (p.Gly621Glu) 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 COL2A1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G621E (p.Gly621Glu) variant details
- p.Gly621Glu
- rs1939281881
- ClinGen CA384549411
- ClinVar RCV002278845
- ClinVar RCV003444024
- Likely pathogenic
- COL2A1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (COL2A1-related disorder; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)