G723S (p.Gly723Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G723S (p.Gly723Ser) 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 Spondyloepiphyseal dysplasia, Stanescu type; Type 2 collagenopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G723S (p.Gly723Ser) variant details
- p.Gly723Ser
- rs1939173389
- ClinGen CA384546936
- ClinVar RCV002034501
- ClinVar RCV004594588
- Likely pathogenic
- Spondyloepiphyseal dysplasia, Stanescu type; Type 2 collagenopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.99
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Spondyloepiphyseal dysplasia, Stanescu type; Type 2 collagenopat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)