G1101R (p.Gly1101Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G1101R (p.Gly1101Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G1101R (p.Gly1101Arg) variant details
- p.Gly1101Arg
- rs864621973
- ClinGen CA339749
- ClinVar RCV000205306
- gnomAD rs864621973
- Pathogenic/Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.05
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)