G516S (p.Gly516Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G516S (p.Gly516Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spondyloepiphyseal dysplasia, Stanescu type; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G516S (p.Gly516Ser) variant details
- p.Gly516Ser
- rs886041895
- ClinGen CA10603265
- ClinVar RCV000274274
- ClinVar RCV003155144
- Pathogenic/Likely pathogenic
- Spondyloepiphyseal dysplasia, Stanescu type; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Spondyloepiphyseal dysplasia, Stanescu type; not provided)
- EBI: Pathogenic (in ACG2)
- UniProt: Pathogenic (in ACG2)
- Structural context available