G633S (p.Gly633Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G633S (p.Gly633Ser) 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 0.91 / 1. The record also includes structural context.
G633S (p.Gly633Ser) variant details
- p.Gly633Ser
- rs1555166826
- ClinGen CA384549076
- ClinVar RCV000521936
- Ensembl rs1555166826
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.90
- MetaLR 0.96
- MetaSVM 1.12
- PolyPhen-2 0.43
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Spondyloepiphyseal dysplasia congenita)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available