G351R (p.Gly351Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G351R (p.Gly351Arg) 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 0.89 / 1. The record also includes published literature and structural context.
G351R (p.Gly351Arg) variant details
- p.Gly351Arg
- rs1438029595
- ClinGen CA384555441
- ClinVar RCV003444053
- Likely pathogenic
- COL2A1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 0.88
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)