G630S (p.Gly630Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G630S (p.Gly630Ser) 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; Legg-Calve-Perthes disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G630S (p.Gly630Ser) variant details
- p.Gly630Ser
- rs1326550771
- ClinGen CA384549141
- ClinVar RCV001311811
- gnomAD rs1326550771
- Likely pathogenic
- not provided; Legg-Calve-Perthes disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (not provided; Legg-Calve-Perthes disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available