G1089R (p.Gly1089Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G1089R (p.Gly1089Arg) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G1089R (p.Gly1089Arg) variant details
- p.Gly1089Arg
- rs1555165183
- ClinGen CA384539972
- ClinVar RCV000623740
- Ensembl rs1555165183
- Pathogenic
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)