G354R (p.Gly354Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G354R (p.Gly354Arg) 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 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.
G354R (p.Gly354Arg) variant details
- p.Gly354Arg
- rs121912871
- ClinGen CA250673
- NCI-TCGA Cosmic COSV6153
- cosmic curated COSV61531
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in spondylometaphyseal dysplasia)
- UniProt: Pathogenic (in spondylometaphyseal dysplasia)
- Structural context available
- Cited in: A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. (PMID 8486375)
- Cited in: Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with… (PMID 8723096)