G480E (p.Gly480Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G480E (p.Gly480Glu) 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; Platyspondylic dysplasia, Torrance type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G480E (p.Gly480Glu) variant details
- p.Gly480Glu
- rs2136571455
- ClinGen CA384552871
- ClinVar RCV002251183
- ClinVar RCV003094084
- Pathogenic/Likely pathogenic
- not provided; Platyspondylic dysplasia, Torrance type
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (not provided; Platyspondylic dysplasia, Torrance type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)