G510C (p.Gly510Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
G510C (p.Gly510Cys) 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 congenita; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G510C (p.Gly510Cys) variant details
- p.Gly510Cys
- rs1555167157
- ClinGen CA384552243
- ClinVar RCV000623786
- Ensembl rs1555167157
- Pathogenic
- Spondyloepiphyseal dysplasia congenita; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia congenita; Inborn genetic diseases)
- EBI: Pathogenic (in ACG2)
- UniProt: Pathogenic (in ACG2)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)