G207R (p.Gly207Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G207R (p.Gly207Arg) 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 Spondyloepiphyseal dysplasia with metatarsal shortening; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G207R (p.Gly207Arg) variant details
- p.Gly207Arg
- rs869312907
- ClinGen CA357206
- ClinVar RCV000210454
- ClinVar RCV001385339
- Pathogenic
- Spondyloepiphyseal dysplasia with metatarsal shortening; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.95
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia with metatarsal shortening; not pro)
- EBI: Pathogenic (in SEDSTN)
- UniProt: Pathogenic (in SEDSTN)
- Structural context available
- Cited in: Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid… (PMID 26183434)
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)